Cellosaurus cell line SDQLCHi043-A (CVCL

Cross-references
Cell line name	SDQLCHi043-A
Accession	CVCL_A8NI
Resource Identification Initiative	To cite this cell line use: SDQLCHi043-A (RRID:CVCL_A8NI)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000553380; Zygosity=Heterozygous (PubMed=38394970). Mutation; HGNC; HGNC:8654; PCCB; Simple; c.1498+2T>C; ClinVar=VCV000217895; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38394970).
Disease	Propionic acidemia (NCIt: C85030) Propionic acidemia (ORDO: Orphanet_35)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9D
Category	Induced pluripotent stem cell
Publications	PubMed=38394970; DOI=10.1016/j.scr.2024.103352 Zi-Long Li, Chen Liu, Hong-Mei Xin, Yu-Qiang Lv, Min Gao, Jian Ma, Ning Liu, Zhong-Tao Gai, Yi Liu; Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene. Stem Cell Res. 76:103352-103352(2024)
Cell line databases/resources	hPSCreg; SDQLCHi043-A
Encyclopedic resources	Wikidata; Q108821286
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5