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Cellosaurus ESi003-A (CVCL_V154)

[Text version]
Cell line name ESi003-A
Synonyms [CRTRd]FiPS3819-4F-2
Accession CVCL_V154
Resource Identification Initiative To cite this cell line use: ESi003-A (RRID:CVCL_V154)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 11055; SLC6A8; Simple; p.Gly466Arg (c.1396G>A); ClinVar=VCV000804101; Zygosity=Hemizygous (BNLC).
Disease Cerebral creatine deficiency syndrome 1 (NCIt: C125665)
X-linked creatine transporter deficiency (ORDO: Orphanet_52503)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Induced pluripotent stem cell
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/VFDeposito_Lineas_-CRTRdFiPS3819-4F-2.pdf
Cell line collections (Providers) EBiSC; ESi003-A
ECACC; 66540064 - Discontinued
Cell line databases/resources hPSCreg; ESi003-A
ISCR; 2262
SKIP; SKIP002421
Biological sample resources BioSamples; SAMEA3303029
Encyclopedic resources Wikidata; Q54832762
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number21