ID   CENSOi038-A
AC   CVCL_WP44
SY   F225c7
DR   hPSCreg; CENSOi038-A
DR   Wikidata; Q93446759
WW   Provider; Axol; -; https://axolbio.com/shop/disease-models/friedreichs-ataxia-familial-control-censoi038-a/
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[>75]; ClinVar=VCV000561195; Zygosity=Heterozygous (Axol).
CC   Donor information: At sampling donor was not affected with Friedreich ataxia but at significant risk for disease.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 10-04-25; Version: 6
//