ID   FRDA50
AC   CVCL_ZC06
SY   F50; 50
DR   Wikidata; Q98126262
RX   PubMed=27002638;
RX   PubMed=35850241;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[353]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[616]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
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   Male
AG   33Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587;
RA   Li, Yan-Jie
RA   Polak, Urszula
RA   Clark, Amanda D.
RA   Bhalla, Angela D.
RA   Chen, Yu-Yun
RA   Li, Ji-Xue
RA   Farmer, Jennifer
RA   Seyer, Lauren
RA   Lynch, David R.
RA   Butler, Jill S.
RA   Napierala, Marek
RT   "Establishment and maintenance of primary fibroblast repositories for
RT   rare diseases -- Friedreich's ataxia example.";
RL   Biopreserv. Biobank. 14:324-329(2016).
//
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).
//