Home  |  Contact

Cellosaurus ESi004-A (CVCL_V156)

[Text version]

Cell line name ESi004-A
Synonyms [GD]FiPS-4F-21c; GD-FiPS-4F-21c; GD-FiPS 21c
Accession CVCL_V156
Resource Identification Initiative To cite this cell line use: ESi004-A (RRID:CVCL_V156)
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 sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 4177; GBA; Simple; p.Gly241Arg (c.721G>A) (G202R); ClinVar=VCV000093459; Zygosity=Heterozygous (Spanish_Stem_Cell_Bank).
Mutation; HGNC; 4177; GBA; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Spanish_Stem_Cell_Bank).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/GDFIPS-4F-21C.pdf
Cell line collections EBiSC; ESi004-A
ECACC; 66540069
Cell line databases/resources hPSCreg; ESi004-A
ISCR; 2264
SKIP; SKIP002422
Biological sample resources BioSamples; SAMEA3303117
Encyclopedic resources Wikidata; Q54832763
Entry history
Entry creation16-Apr-2014
Last entry update20-May-2021
Version number18