ID   FRDA4090
AC   CVCL_E6E2
SY   F4090; 4090
DR   ABM; T5448
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[541]; ClinVar=VCV000561195; Zygosity=Heterozygous (ABM=T5448).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[783]; ClinVar=VCV000561195; Zygosity=Heterozygous (ABM=T5448).
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)
SX   Female
AG   27Y
CA   Finite cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//