Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene

Summary

We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) in KIT gene by episomal vector (EV) reprogramming system. This iPSC line carrying KIT gene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Ma Y, Yan B, Yang X, Li Y, Guan J, Dong R, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2019 Oct;40:101565
PubMed 31522012
DOI 10.1016/j.scr.2019.101565

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