Cellosaurus cell line IBMS-iPSC-043-05 (CVCL

Cross-references
Cell line name	IBMS-iPSC-043-05
Synonyms	IBMSi012-A
Accession	CVCL_UK20
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-043-05 (RRID:CVCL_UK20)
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:9039; PLA2G6; Simple; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Homozygous (PubMed=30978640).
Disease	Parkinson disease 14, autosomal recessive (NCIt: C201519) Adult-onset dystonia-parkinsonism (ORDO: Orphanet_199351)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	33Y
Category	Induced pluripotent stem cell
Publications	PubMed=30978640; DOI=10.1016/j.scr.2019.101432 Yu-Che Cheng, Han-I. Lin, Shih-Han Syu, Huai-En Lu, Ching-Ying Huang, Chin-Hsien Lin, Patrick Ching-Ho Hsieh; Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene. Stem Cell Res. 37:101432-101432(2019)
Cell line collections (Providers)	BCRC; SC81108
Cell line databases/resources	hPSCreg; IBMSi012-A SKIP; SKIP005712
Encyclopedic resources	Wikidata; Q94313052
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	12