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Spontaneous ATM gene reversion in A-T iPSC to produce an isogenic cell line

Descriptive

TypeOfResource
Text
TitleInfo
Title
Spontaneous ATM gene reversion in A-T iPSC to produce an isogenic cell line
Name (type = corporate); (authority = RutgersOrg-Department)
NamePart
Cell Biology and Neuroscience
Name (type = corporate); (authority = RutgersOrg-School)
NamePart
School of Arts and Sciences (SAS) (New Brunswick)
Genre (authority = RULIB-FS)
Article, Refereed
Genre (authority = NISO JAV)
Version of Record (VoR)
Note (type = peerReview)
Peer reviewed
OriginInfo
Publisher
Elsevier
DateIssued (encoding = w3cdtf); (qualifier = exact); (keyDate = yes)
2015
Abstract (type = Abstract)
A spontaneously reverted iPSC line was identified from an A-T subject with heterozygous ATM truncation mutations. The reverted iPSC line expressed ATM protein and was capable of radiation-induced phosphorylation of CHK2 and H2A.X. Genome-wide SNP analysis confirmed a match to source T-cells and also to a distinct, non-reverted iPSC line from the same subject. Rearranged T-cell receptor sequences predict that the iPSC culture originated as several independently reprogrammed cells that resolved into a single major clone, suggesting that gene correction likely occurred early in the reprogramming process. Gene expression analysis comparing ATM-/- iPSC lines to unrelated ATM+/- cells identifies a large number of differences but comparing only the isogenic pair of A-T iPSC lines reveals that the primary pathway affected by loss of ATM is a diminished expression of p53-related mRNAs. Gene reversion in culture, while likely a rare event, provided a novel, reverted cell line for studying ATM function.
Language
LanguageTerm (authority = ISO 639-3:2007); (type = text)
English
PhysicalDescription
InternetMediaType
application/pdf
Extent
25 p.
Subject (authority = local)
Topic
Induced pluripotent stem cells
Subject (authority = LCSH)
Topic
Genetics
Subject (authority = LCSH)
Topic
Gene expression
Subject (authority = LCSH)
Topic
DNA damage
Extension
DescriptiveEvent
Type
Citation
DateTime (encoding = w3cdtf)
2015
AssociatedObject
Type
Journal
Relationship
Has part
Name
Stem Cell Reports
Identifier (type = volume and issue)
5(6)
Reference (type = url)
http://dx.doi.org/10.1016/j.stemcr.2015.10.010
Detail
1097-1108
Extension
DescriptiveEvent
Type
Grant award
AssociatedEntity
Role
Funder
Name
A-T Children's Project
AssociatedEntity
Role
Originator
Name
Ronald P. Hart
Name (type = personal)
NamePart (type = family)
Lin
NamePart (type = given)
Lucy
Affiliation
Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Swerdel
NamePart (type = given)
Mavis R.
Affiliation
Cell Biology and Neuroscience, Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Lazaropoulos
NamePart (type = given)
Michael P.
Affiliation
Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Hoffman
NamePart (type = given)
Gary S.
Affiliation
Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Toro-Ramos
NamePart (type = given)
Alana J.
Affiliation
Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Wright
NamePart (type = given)
Jennifer
Affiliation
Johns Hopkins University School of Medicine
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Lederman
NamePart (type = given)
Howard
Affiliation
Johns Hopkins University School of Medicine
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal); (authority = orcid); (authorityURI = http://id.loc.gov/vocabulary/identifiers/orcid.html); (valueURI = http://orcid.org/0000-0002-2745-442X)
NamePart (type = family)
Chen
NamePart (type = given)
Jianmin
Affiliation
Cell Biology and Neuroscience, Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal)
NamePart (type = family)
Moore
NamePart (type = given)
Jennifer C.
Affiliation
Cell Biology and Neuroscience, Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
Name (type = personal); (authority = orcid); (authorityURI = http://id.loc.gov/vocabulary/identifiers/orcid.html); (valueURI = http://orcid.org/0000-0003-4836-8712)
NamePart (type = family)
Hart
NamePart (type = given)
Ronald P.
Affiliation
Cell Biology and Neuroscience, Rutgers University
Role
RoleTerm (type = text); (authority = marcrt)
author
RelatedItem (type = host)
TitleInfo
Title
Hart, Ronald P.
Identifier (type = local)
rucore30184600001
RelatedItem (type = host)
TitleInfo
Title
Swerdel, Mavis R.
Identifier (type = local)
rucore30193900001
RelatedItem (type = host)
TitleInfo
Title
Moore, Jennifer C.
Identifier (type = local)
rucore30194000001
Location
PhysicalLocation (authority = marcorg); (displayLabel = Rutgers, The State University of New Jersey)
NjNbRU
Identifier (type = doi)
doi:10.7282/T3474CV1
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Copyright for scholarly resources published in RUcore is retained by the copyright holder. By virtue of its appearance in this open access medium, you are free to use this resource, with proper attribution, in educational and other non-commercial settings. Other uses, such as reproduction or republication, may require the permission of the copyright holder.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
RightsEvent
Type
Permission or license
AssociatedObject
Type
License
Name
Multiple author license v. 1
Detail
I hereby grant to Rutgers, The State University of New Jersey (Rutgers) the non-exclusive right to retain, reproduce, and distribute the deposited work (Work) in whole or in part, in and from its electronic format, without fee. This agreement does not represent a transfer of copyright to Rutgers.Rutgers may make and keep more than one copy of the Work for purposes of security, backup, preservation, and access and may migrate the Work to any medium or format for the purpose of preservation and access in the future. Rutgers will not make any alteration, other than as allowed by this agreement, to the Work.I represent and warrant to Rutgers that the Work is my original work. I also represent that the Work does not, to the best of my knowledge, infringe or violate any rights of others.I further represent and warrant that I have obtained all necessary rights to permit Rutgers to reproduce and distribute the Work and that any third-party owned content is clearly identified and acknowledged within the Work.By granting this license, I acknowledge that I have read and agreed to the terms of this agreement and all related RUcore and Rutgers policies.
RightsHolder (type = personal)
Name
FamilyName
Lin
GivenName
Lucy
Role
Copyright holder
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Name
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Swerdel
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Mavis
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R.
Role
Copyright holder
RightsHolder (type = personal)
Name
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Lazaropoulos
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Michael
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P.
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Copyright holder
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Name
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Hoffman
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Gary
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S.
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Copyright holder
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Name
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Toro-Ramos
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Alana
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J.
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Copyright holder
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Name
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Wright
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Jennifer
Role
Copyright holder
RightsHolder (type = personal)
Name
FamilyName
Lederman
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Howard
Role
Copyright holder
RightsHolder (type = personal)
Name
FamilyName
Chen
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Jianmin
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Copyright holder
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Name
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Moore
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Jennifer
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C.
Role
Copyright holder
RightsHolder (type = personal)
Name
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Hart
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Ronald
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P.
Role
Copyright holder
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RULTechMD (ID = TECHNICAL1)
ContentModel
Document
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