ID   SDQLCHi006-A
AC   CVCL_XJ78
DR   hPSCreg; SDQLCHi006-A
DR   Wikidata; Q98129456
RX   PubMed=31610500;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:987; BCKDHB; Simple; p.Arg168Cys (c.502C>T); ClinVar=VCV000096586; Zygosity=Heterozygous (PubMed=31610500).
CC   Sequence variation: Mutation; HGNC; HGNC:987; BCKDHB; Simple; p.Thr322Ile (c.965C>T); Zygosity=Heterozygous (PubMed=31610500).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34806; Maple syrup urine disease
DI   ORDO; Orphanet_511; Maple syrup urine disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5D
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31610500; DOI=10.1016/j.scr.2019.101579;
RA   Li, Yue
RA   Zhang, Hai-Yan
RA   Yan, Bei-Bei
RA   Ma, Yan-Yan
RA   Yang, Xiao-Meng
RA   Guan, Jing-Yun
RA   Lv, Yu-Qiang
RA   Gao, Min
RA   Ma, Jian
RA   Gai, Zhong-Tao
RA   Liu, Yi
RT   "An induced pluripotent stem cell line (SDQLCHi006-A) derived from a
RT   patient with maple syrup urine disease type Ib carrying compound
RT   heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.";
RL   Stem Cell Res. 40:101579-101579(2019).
//