ID   ND40064
AC   CVCL_EZ42
DR   Coriell; ND40064
DR   NHCDR; ND40064
DR   Wikidata; Q54930145
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[366]; ClinVar=VCV000561195; Zygosity=Heterozygous (NHCDR=ND40064).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1066]; ClinVar=VCV000561195; Zygosity=Heterozygous (NHCDR=ND40064).
CC   Discontinued: Coriell; ND40064; true.
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)
SX   Male
AG   26Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//