ID   SDQLCHi021-A
AC   CVCL_YK82
DR   hPSCreg; SDQLCHi021-A
DR   SKIP; SKIP005642
DR   Wikidata; Q98129485
RX   PubMed=32058304;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Ile150Pro (c.448_449delinsCC); Zygosity=Heterozygous (PubMed=32058304).
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000001425; Zygosity=Heterozygous (PubMed=32058304).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142174; Methylmalonic aciduria and homocystinuria, cblC type
DI   ORDO; Orphanet_79282; Methylmalonic acidemia with homocystinuria, type cblC
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32058304; DOI=10.1016/j.scr.2020.101709;
RA   Guan J.-Y., Li Z.-L., Zhang H.-Y., Yang X.-M., Ma Y.-Y., Li Y.,
RA   Dong R., Gai Z.-T., Liu Y.;
RT   "Generation of a Human iPSC line (SDQLCHi021-A) from a patient with
RT   methylmalonic acidemia cblC type carrying compound heterozygous
RT   mutations in MMACHC gene.";
RL   Stem Cell Res. 43:101709-101709(2020).
//