ID   FRDA4743
AC   CVCL_E6E0
SY   F4743; 4743
DR   ABM; T5477
RX   PubMed=32291635;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[498]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=32291635).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1043]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=32291635).
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   Male
AG   29Y
CA   Finite cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519;
RA   Misiorek J.O., Schreiber A.M., Urbanek-Trzeciak M.O., Hauser L.A.,
RA   Lynch D.R., Napierala J.S., Napierala M.;
RT   "A comprehensive transcriptome analysis identifies FXN and BDNF as
RT   novel targets of miRNAs in Friedreich's ataxia patients.";
RL   Mol. Neurobiol. 57:2639-2653(2020).
//