ID   ESi039-A
AC   CVCL_9S12
SY   [PD]FiPS031-4F-1; [PD] FiPS031-4F-1
DR   BioSamples; SAMEA5070573
DR   hPSCreg; ESi039-A
DR   Wikidata; Q54832790
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/Deposito_linea-PDFiPS031-4F-11.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/31/Caracteristicas%20-%20Documento_Deposito_FiPS031-4F-1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/31/Anexo%20-%20Anexo_deposito_FiPS031-4F-1.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; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (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,Y
ST   CSF1PO: 12
ST   D13S317: 11
ST   D16S539: 9,12
ST   D21S11: 30,31.2
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9Q0 ! FFF-031
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 17
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