Cellosaurus cell line LCSBi004-B (CVCL

Cellosaurus LCSBi004-B (CVCL_A8MA)

Cross-references
Cell line name	LCSBi004-B
Synonyms	ND29369-PARKIN/PRKN/PARK2-R275W-clone 4; ND29369-PARKIN/PARK2-R275W-clone 4; ND29369-clone 4; ND29369-4
Accession	CVCL_A8MA
Resource Identification Initiative	To cite this cell line use: LCSBi004-B (RRID:CVCL_A8MA)
Comments	From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg. Population: Latino or Hispanic; Dominican. Omics: Variations; 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:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=35378365).
Disease	Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603) Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DD48 (ND29369)
Sex of cell	Female
Age at sampling	61Y
Category	Induced pluripotent stem cell
Publications	PubMed=35378365; DOI=10.1016/j.scr.2022.102765 Gabriela Novak, Steven Finkbeiner, Gaia Skibinski, Michela Bernini, Cristina Donato, Alexander Skupin; 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; LCSBi004-B
Biological sample resources	BioSamples; SAMEA13166758
Encyclopedic resources	Wikidata; Q108820774
Entry history
Entry creation	23-Sep-2021
Last entry update	10-Apr-2025
Version number	9