Cellosaurus cell line LCSBi002-C (CVCL

Cellosaurus LCSBi002-C (CVCL_A8LV)

Cross-references
Cell line name	LCSBi002-C
Synonyms	ND40066-PINK1/PARK6-ILE368ASN-clone 8; ND40066-PINK1-ILE368ASN-clone 8; ND40066-clone 8; ND40066-8
Accession	CVCL_A8LV
Resource Identification Initiative	To cite this cell line use: LCSBi002-C (RRID:CVCL_A8LV)
Comments	From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg. Population: Caucasian; Polish. Omics: Array-based CGH. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (PubMed=35378365).
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_EZ44 (ND40066)
Sex of cell	Male
Age at sampling	64Y
Category	Induced pluripotent stem cell
Publications	PubMed=35378365; DOI=10.1016/j.scr.2022.102765 Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C., Skupin A. Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004). Stem Cell Res. 61:102765-102765(2022)
Cell line databases/resources	hPSCreg; LCSBi002-C
Biological sample resources	BioSamples; SAMEA13151242
Encyclopedic resources	Wikidata; Q108820769
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	8