ID   ESi042-A
AC   CVCL_9S11
SY   [TSD]FiPS-4F-3-1; [TSD] FiPS-4F-3-1
DR   BioSamples; SAMEA5398472
DR   hPSCreg; ESi042-A
DR   SKIP; SKIP002589
DR   Wikidata; Q54832793
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/Deposito-Linea-TSDFiPS-4F-3-1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/35/Caracteristicas%20-%20Linea_TSD-FiPS-4F-3-1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/35/Anexo%20-%20Anexo_TSD-FiPS-4F-3-1.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; 4878; HEXA; Simple; p.Trp420Cys (c.1260G>C); ClinVar=VCV000003901; Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; c.1330+1G>A (IVS11+1G>A); ClinVar=VCV000371490; Zygosity=Heterozygous; Note=Splice donor mutation (BNLC).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U385 ! GM00527
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 18
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