ID   GM23913
AC   CVCL_T819
SY   GM23913*D
DR   Coriell; GM23913
DR   SKIP; SKIP000262
DR   SKIP; SKIP004373
DR   Wikidata; Q54853437
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
CC   Caution: Indicated by Coriell to have 420 and 541 GAA repeats.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T820 ! GM04078
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 17
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