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Cellosaurus STBCi037-A (CVCL_RC12)

[Text version]

Cell line name STBCi037-A
Synonyms SFC816-03-02
Accession CVCL_RC12
Resource Identification Initiative To cite this cell line use: STBCi037-A (RRID:CVCL_RC12)
Comments From: StemBANCC; UK.
Derived from sampling site: Fibroblast.
Sequence variations Mutation; HGNC; 4162; GARS1; Simple; p.Ser635Leu (c.1904C>T) (S581L); ClinVar=VCV000209157; Zygosity=Unspecified (EBiSC).
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_RC13 ! STBCi037-B
CVCL_RC14 ! STBCi037-C
Sex of cell Female
Age at sampling 60-64Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections EBiSC; STBCi037-A - Discontinued
ECACC; 66540721
Cell line databases/resources hPSCreg; STBCi037-A
Biological sample resources BioSamples; SAMEA104493691
Other Wikidata; Q54956452
Entry history
Entry creation05-Mar-2018
Last entry update20-May-2021
Version number6