Cellosaurus cell line IBMS-iPSC-057-05 (CVCL

Cross-references
Cell line name	IBMS-iPSC-057-05
Synonyms	IBMSi022-A
Accession	CVCL_A1MA
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-057-05 (RRID:CVCL_A1MA)
Comments	From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12585; UQCRC1; Simple; p.Tyr314Ser (c.941A>C); ClinVar=VCV001064663; Zygosity=Heterozygous (PubMed=33070102).
Disease	Parkinsonism with polyneuropathy (NCIt: C201521) Parkinsonism with polyneuropathy (ORDO: Orphanet_611237)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	75Y
Category	Induced pluripotent stem cell
Publications	PubMed=33070102; DOI=10.1016/j.scr.2020.102031 Chih-Hsin Ou-Yang, Han-Yi Lin, Cheng-Yen Huang, Chin-Hsien Lin; Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene. Stem Cell Res. 49:102031-102031(2020)
Cell line databases/resources	hPSCreg; IBMSi022-A SKIP; SKIP005875
Biological sample resources	BioSamples; SAMEA7438821
Encyclopedic resources	Wikidata; Q102114193
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8