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Cellosaurus GM23913 (CVCL_T819)

[Text version]
Cell line name GM23913
Synonyms GM23913*D
Accession CVCL_T819
Resource Identification Initiative To cite this cell line use: GM23913 (RRID:CVCL_T819)
Comments Population: Caucasian.
Caution: Indicated by Coriell to have 420 and 541 GAA repeats.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T820 (GM04078)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM23913
Cell line databases/resources SKIP; SKIP000262
SKIP; SKIP004373
Encyclopedic resources Wikidata; Q54853437
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number17