Cellosaurus cell line SHCDNi007-A (CVCL

Cross-references
Cell line name	SHCDNi007-A
Synonyms	20210812SLQZZ-C1-P6
Accession	CVCL_C0JI
Resource Identification Initiative	To cite this cell line use: SHCDNi007-A (RRID:CVCL_C0JI)
Comments	From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8636; PC; Simple; p.Ile61Thr (c.182T>C); Zygosity=Heterozygous (PubMed=36508859). Mutation; HGNC; HGNC:8636; PC; Simple; p.Val861Met (c.2581G>A); Zygosity=Heterozygous (PubMed=36508859).
Disease	Pyruvate carboxylase deficiency (NCIt: C85040) Pyruvate carboxylase deficiency (ORDO: Orphanet_3008)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2M
Category	Induced pluripotent stem cell
Publications	PubMed=36508859; DOI=10.1016/j.scr.2022.102997 Jing-Jing Sun, Pei Lu, Yun-Lin Shen, Li Ma; Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C / c.2581G > A) variants in PC. Stem Cell Res. 66:102997-102997(2023)
Cell line databases/resources	hPSCreg; SHCDNi007-A
Biological sample resources	BioSamples; SAMEA13182979
Encyclopedic resources	Wikidata; Q112930387
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5