ID   FRDA4111
AC   CVCL_E6E8
SY   F4111; 4111
RX   PubMed=35850241;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[392]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=35850241).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[485]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=35850241).
CC   Omics: Lipidomics.
CC   Omics: Metabolomics.
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   19Y
CA   Finite cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481;
RA   Wang, De-Zhen
RA   Ho, Elaine S.
RA   Cotticelli, M. Grazia
RA   Xu, Jimmy Pei-Ning
RA   Napierala, Jill Sergesketter
RA   Hauser, Lauren A.
RA   Napierala, Marek
RA   Himes, Blanca E.
RA   Wilson, Robert B.
RA   Lynch, David R.
RA   Mesaros, Clementina
RT   "Skin fibroblast metabolomic profiling reveals that lipid dysfunction
RT   predicts the severity of Friedreich's ataxia.";
RL   J. Lipid Res. 63:100255.1-100255.14(2022).
//