Cellosaurus cell line KCi005-A (CVCL

Cross-references
Cell line name	KCi005-A
Synonyms	Pink1 P0947, clone Cl11B; Pink1-Cl11B-P0947
Accession	CVCL_D6L6
Resource Identification Initiative	To cite this cell line use: KCi005-A (RRID:CVCL_D6L6)
Comments	From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark. Population: Caucasian. Omics: Deep exome analysis. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (PubMed=38103334).
Disease	Parkinson disease 6, early onset (NCIt: C184990) Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=38103334; DOI=10.1016/j.scr.2023.103279 Larsen L.J., Hjermind L.E., Moller L.B. Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsons disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456. Stem Cell Res. 74:103279-103279(2024)
Cell line databases/resources	hPSCreg; KCi005-A
Encyclopedic resources	Wikidata; Q127382417
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3