Cellosaurus cell line BCHNCi003-A (CVCL

Cross-references
Cell line name	BCHNCi003-A
Accession	CVCL_D0VM
Resource Identification Initiative	To cite this cell line use: BCHNCi003-A (RRID:CVCL_D0VM)
Comments	From: Department of Neurology, Beijing Children's Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 21606; MPC1; Simple; p.Ala70Thr (c.208G>A); ClinVar=VCV001236162; Zygosity=Heterozygous (PubMed=37769383). Mutation; HGNC; 21606; MPC1; Simple; p.Arg97Gln (c.290G>A); ClinVar=VCV001236163; Zygosity=Heterozygous (PubMed=37769383).
Disease	Mitochondrial pyruvate carrier deficiency (NCIt: C202117) Mitochondrial pyruvate carrier deficiency (ORDO: Orphanet_447784)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=37769383; DOI=10.1016/j.scr.2023.103206 Jiang H.-F., Xu C.-L., Li W.-Y., Zhou L., Fang F. Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations. Stem Cell Res. 72:103206-103206(2023)
Cell line databases/resources	hPSCreg; BCHNCi003-A
Biological sample resources	BioSamples; SAMEA114246936
Encyclopedic resources	Wikidata; Q123030765
Entry history
Entry creation	05-Oct-2023
Last entry update	30-Jan-2024
Version number	2