Cellosaurus cell line KCi004-A (CVCL

Cross-references
Cell line name	KCi004-A
Synonyms	Pink1 c2512, clone Cl1B; Pink1-Cl1B-c2512
Accession	CVCL_C9ID
Resource Identification Initiative	To cite this cell line use: KCi004-A (RRID:CVCL_C9ID)
Comments	From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark. Population: Caucasian. 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=37524028).
Disease	Parkinson disease 6, early onset (NCIt: C184990) Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_C9IC (FFF-051)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=37524028; DOI=10.1016/j.scr.2023.103175 Larsen L.J., Moller L.B. Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinson's disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456. Stem Cell Res. 71:103175-103175(2023)
Cell line databases/resources	hPSCreg; KCi004-A
Encyclopedic resources	Wikidata; Q123032809
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3