ID   GM11335
AC   CVCL_9R30
DR   CLO; CLO_0026062
DR   Coriell; GM11335
DR   Wikidata; Q54845018
RX   CelloPub=CLPUB00447;
RX   PubMed=12851857;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; Zygosity=Homozygous (PubMed=12851857).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C155761; Peroxisome biogenesis disorder 7B
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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RX   PubMed=12851857; DOI=10.1086/377004; PMCID=PMC1180364;
RA   Matsumoto, Naomi
RA   Tamura, Shigehiko
RA   Furuki, Satomi
RA   Miyata, Non
RA   Moser, Ann Boody
RA   Shimozawa, Nobuyuki
RA   Moser, Hugo Wolfgang
RA   Suzuki, Yasuyuki
RA   Kondo, Naomi
RA   Fujiki, Yukio
RT   "Mutations in novel peroxin gene PEX26 that cause
RT   peroxisome-biogenesis disorders of complementation group 8 provide a
RT   genotype-phenotype correlation.";
RL   Am. J. Hum. Genet. 73:233-246(2003).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//