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Cellosaurus UNAMi003-A (CVCL_D6P7)

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Cell line name UNAMi003-A
Synonyms IFC-UNAM iPD03-PINK1
Accession CVCL_D6P7
Resource Identification Initiative To cite this cell line use: UNAMi003-A (RRID:CVCL_D6P7)
Comments From: Instituto de Fisiologia Celular, Universidad Nacional Autonoma de Mexico; Mexico city; Mexico.
Population: Mexican.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Ala443Alafs*39 (c.1423delC); Zygosity=Homozygous (PubMed=38359473).
Disease Parkinson disease 6, early onset (NCIt: C184990)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=38359473; DOI=10.1016/j.scr.2024.103337
Xochitl Flores-Ponce, Adolfo Lopez-Ornelas, Itzel Escobedo-Avila, Mayela Rodriguez-Violante, David Davila-Ortiz de Montellano, Amin Cervantes-Arriaga, Nancy Monroy-Jaramillo, Aurelio Campos-Romo, Ivan Velasco;
Establishment of induced pluripotent stem cell lines derived from Parkinson's disease Mexican patients: a sporadic (UNAMi002-A) and a familial (UNAMi003-A) case carrying a mutation in PINK1.
Stem Cell Res. 76:103337-103337(2024)

Cross-references
Cell line databases/resources hPSCreg; UNAMi003-A
Biological sample resources BioSamples; SAMEA114630726
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2