ID   iPS FRDA68 Pi2
AC   CVCL_ZC11
SY   Pi2
DR   Wikidata; Q98126786
RX   PubMed=25758173;
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[570]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1200]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
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_ZC08 ! FRDA68
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=25758173; DOI=10.1038/mt.2015.41; PMCID=PMC4817761;
RA   Li Y.-J., Polak U., Bhalla A.D., Rozwadowska N., Butler J.S.,
RA   Lynch D.R., Dent S.Y.R., Napierala M.;
RT   "Excision of expanded GAA repeats alleviates the molecular phenotype
RT   of Friedreich's ataxia.";
RL   Mol. Ther. 23:1055-1065(2015).
//