ID   ESi040-A
AC   CVCL_9S09
SY   [PD]FiPS006-4F-11; [PD] FiPS006-4F-11
DR   hPSCreg; ESi040-A
DR   SKIP; SKIP002590
DR   Wikidata; Q54832791
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/Deposito_linea-PDFiPS006-4F-111.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/32/Caracteristicas%20-%20Documento_Deposito_FiPS006-4F-11.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/32/Anexo%20-%20Anexo_deposito_FiPS006_4F_11.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (BNLC).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 12,14
ST   D16S539: 13,14
ST   D21S11: 29,33.2
ST   D5S818: 13
ST   D7S820: 8
ST   TH01: 6,8
ST   TPOX: 8,10
ST   vWA: 16,18
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   53Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 17
//