ID   GM23404
AC   CVCL_F192
SY   GM23404*C
DR   Coriell; GM23404
DR   SKIP; SKIP000189
DR   SKIP; SKIP004363
DR   Wikidata; Q54853050
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[330]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23404).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[380]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23404).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_F193 ! GM03816
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 20
//