An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.

Abstract:

:Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained by non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The iPSC line (SDQLCHi025-A) presented pluripotent cell morphology, high mRNA levels of pluripotency markers, differentiation potential in vitro, a normal karyotype, and carrying RYR1 gene mutations.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Zhang H,Ma Y,Lv Y,Wan Y,Zhao Q,Gai Z,Liu Y

doi

10.1016/j.scr.2020.101775

subject

Has Abstract

pub_date

2020-05-01 00:00:00

pages

101775

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30079-9

journal_volume

45

pub_type

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