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Cellosaurus ESi042-A (CVCL_9S11)

[Text version]
Cell line name ESi042-A
Synonyms [TSD]FiPS-4F-3-1; [TSD] FiPS-4F-3-1
Accession CVCL_9S11
Resource Identification Initiative To cite this cell line use: ESi042-A (RRID:CVCL_9S11)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Trp420Cys (c.1260G>C); ClinVar=VCV000003901; Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; 4878; HEXA; Simple; c.1330+1G>A (IVS11+1G>A); ClinVar=VCV000371490; Zygosity=Heterozygous; Note=Splice donor mutation (BNLC).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U385 (GM00527)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/Deposito-Linea-TSDFiPS-4F-3-1.pdf
Cell line databases/resources hPSCreg; ESi042-A
SKIP; SKIP002589
Biological sample resources BioSamples; SAMEA5398472
Encyclopedic resources Wikidata; Q54832793
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number18