Cellosaurus cell line SDQLCHi057-A (CVCL

Cross-references
Cell line name	SDQLCHi057-A
Accession	CVCL_C9JH
Resource Identification Initiative	To cite this cell line use: SDQLCHi057-A (RRID:CVCL_C9JH)
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:6186; IVD; Simple; p.Asn72Ser (c.215A>G); ClinVar=VCV002168221; Zygosity=Heterozygous (PubMed=38401345). Mutation; HGNC; HGNC:6186; IVD; Simple; p.Met295Val (c.883A>G); Zygosity=Heterozygous (PubMed=38401345).
Disease	Isovaleric acidemia (NCIt: C98964) Isovaleric acidemia (ORDO: Orphanet_33)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y7M
Category	Induced pluripotent stem cell
Publications	PubMed=38401345; DOI=10.1016/j.scr.2024.103314 Liu N., Zhang Y.-A., Dong R., Lv Y.-Q., Gao M., Yang X.-M., Liu Y., Gai Z.-T. Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene. Stem Cell Res. 76:103314-103314(2024)
Cell line databases/resources	hPSCreg; SDQLCHi057-A
Encyclopedic resources	Wikidata; Q123033466
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4