ID   UNAMi003-A
AC   CVCL_D6P7
SY   IFC-UNAM iPD03-PINK1
DR   BioSamples; SAMEA114630726
DR   hPSCreg; UNAMi003-A
RX   PubMed=38359473;
CC   From: Instituto de Fisiologia Celular, Universidad Nacional Autonoma de Mexico; Mexico city; Mexico.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Ala443Alafs*39 (c.1423delC); Zygosity=Homozygous (PubMed=38359473).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38359473; DOI=10.1016/j.scr.2024.103337;
RA   Flores-Ponce X., Lopez-Ornelas A., Escobedo-Avila I.,
RA   Rodriguez-Violante M., Davila-Ortiz de Montellano D.,
RA   Cervantes-Arriaga A., Monroy-Jaramillo N., Campos-Romo A.,
RA   Velasco I.;
RT   "Establishment of induced pluripotent stem cell lines derived from
RT   Parkinson's disease Mexican patients: a sporadic (UNAMi002-A) and a
RT   familial (UNAMi003-A) case carrying a mutation in PINK1.";
RL   Stem Cell Res. 76:103337-103337(2024).
//