Article
Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.
Stem cell reports - 8 Dec 2015
Lin Lucy, Swerdel Mavis R, Lazaropoulos Michael P, Hoffman Gary S, Toro-Ramos Alana J, Wright Jennifer, Lederman Howard, Chen Jianmin, Moore Jennifer C, Hart Ronald P
Abstract excerpt
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...
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