ID   SDQLCHi033-A
AC   CVCL_A3ZD
DR   hPSCreg; SDQLCHi033-A
DR   Wikidata; Q105511012
RX   PubMed=33388706;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 987; BCKDHB; Simple; p.Pro366Gln (c.1097C>A); Zygosity=Homozygous (PubMed=33388706).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C34806; Maple syrup urine disease
DI   ORDO; Orphanet_511; Maple syrup urine disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   11D
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 20-05-21; Version: 2
//
RX   PubMed=33388706; DOI=10.1016/j.scr.2020.102146;
RA   Wang B., Liu C., Zhang H.-Y., Gai Z.-T., Liu Y.;
RT   "An induced pluripotent stem cell line (SDQLCHi033-A) derived from a
RT   patient with maple syrup urine disease type Ib carrying a homozygous
RT   mutation in BCKDHB gene.";
RL   Stem Cell Res. 50:102146-102146(2021).
//