Home  |  Contact

Cellosaurus LCSBi002-B (CVCL_A8LU)

[Text version]
Cell line name LCSBi002-B
Synonyms ND40066-PINK1/PARK6-ILE368ASN-clone 7; ND40066-PINK1-ILE368ASN-clone 7; ND40066-clone 7; ND40066-7
Accession CVCL_A8LU
Resource Identification Initiative To cite this cell line use: LCSBi002-B (RRID:CVCL_A8LU)
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; 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)

Cross-references
Cell line databases/resources hPSCreg; LCSBi002-B
Biological sample resources BioSamples; SAMEA13093853
Encyclopedic resources Wikidata; Q108820768
Entry history
Entry creation23-Sep-2021
Last entry update30-Jan-2024
Version number7