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Cellosaurus LCSBi004-B (CVCL_A8MA)

[Text version]
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: Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; 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
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)

Cross-references
Cell line databases/resources hPSCreg; LCSBi004-B
Biological sample resources BioSamples; SAMEA13166758
Encyclopedic resources Wikidata; Q108820774
Entry history
Entry creation23-Sep-2021
Last entry update30-Jan-2024
Version number7