Cellosaurus cell line SMBCi019-A (CVCL

Cross-references
Cell line name	SMBCi019-A
Accession	CVCL_C0JP
Resource Identification Initiative	To cite this cell line use: SMBCi019-A (RRID:CVCL_C0JP)
Comments	From: Shandong Medical Biotechnological Center; Jinan; China. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Trp203Ter (c.609G>A); ClinVar=VCV000030800; Zygosity=Heterozygous (PubMed=35660814).
Disease	Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174) Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=35660814; DOI=10.1016/j.scr.2022.102821 Jing Luan, Hui Zou, Ya-Zhou Cui, Jing Wang, Zhen-Zhong Han, Geng-Lin Zhang, Jin-Xiang Han; Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations. Stem Cell Res. 62:102821-102821(2022)
Cell line databases/resources	hPSCreg; SMBCi019-A
Encyclopedic resources	Wikidata; Q112930415
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5