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An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.

Abstract：

:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib carrying compound heterozygous mutations of c.502C > T/p.R168C and c.965C > T/p.T322I in BCKDHB. The iPSCs had normal karyotype, expressed pluripotency markers, free of genomically integrated episomal plasmids and demonstrated trilineage differentiation potential in vitro.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Li Y,Zhang H,Yan B,Ma Y,Yang X,Guan J,Lv Y,Gao M,Ma J,Gai Z,Liu Y

doi

10.1016/j.scr.2019.101579

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

101579

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(19)30209-0

journal_volume

40

pub_type

杂志文章

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