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Cellosaurus ND40066 (CVCL_EZ44)

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Cell line name ND40066
Accession CVCL_EZ44
Resource Identification Initiative To cite this cell line use: ND40066 (RRID:CVCL_EZ44)
Comments Population: Caucasian; Polish.
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 (NHCDR=ND40066).
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 Children:
CVCL_YC26 (GIBHi003-A)CVCL_A8LT (LCSBi002-A)CVCL_A8LU (LCSBi002-B)
CVCL_A8LV (LCSBi002-C)
Sex of cell Male
Age at sampling 64Y
Category Finite cell line
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)

Cross-references
Cell line collections (Providers) Coriell; ND40066 - Discontinued
NHCDR; ND40066
Encyclopedic resources Wikidata; Q54930147
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14