ID   SMBCi019-A
AC   CVCL_C0JP
DR   hPSCreg; SMBCi019-A
DR   Wikidata; Q112930415
RX   PubMed=35660814;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Trp203Ter (c.609G>A); ClinVar=VCV000030800; Zygosity=Heterozygous (PubMed=35660814).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
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   10Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35660814; DOI=10.1016/j.scr.2022.102821;
RA   Luan J., Zou H., Cui Y.-Z., Wang J., Han Z.-Z., Zhang G.-L., Han J.-X.;
RT   "Generation of induced pluripotent stem cells named SMBCi019-A from a
RT   methylmalonic acidemia patient carrying the MMACHC mutations.";
RL   Stem Cell Res. 62:102821-102821(2022).
//