Cellosaurus logo
expasy logo

Cellosaurus STBCi018-A (CVCL_RB68)

[Text version]
Cell line name STBCi018-A
Synonyms SFC815-03-06
Accession CVCL_RB68
Resource Identification Initiative To cite this cell line use: STBCi018-A (RRID:CVCL_RB68)
Comments From: StemBANCC; Oxford; United Kingdom.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4162; GARS1; Simple; p.Ser635Leu (c.1904C>T) (S581L); ClinVar=VCV000209157; Zygosity=Unspecified (EBiSC=STBCi018-A).
Disease Charcot-Marie-Tooth disease type 2D (NCIt: C122659)
Autosomal dominant Charcot-Marie-Tooth disease type 2D (ORDO: Orphanet_99938)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RB69 ! STBCi018-B
CVCL_RB70 ! STBCi018-C
Sex of cell Male
Age at sampling 35-39Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; STBCi018-A
ECACC; 66540673 - Discontinued
Cell line databases/resources hPSCreg; STBCi018-A
Biological sample resources BioSamples; SAMEA104493633
Encyclopedic resources Wikidata; Q54956384
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11