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Cellosaurus GM07371 (CVCL_W727)

[Text version]
Cell line name GM07371
Accession CVCL_W727
Resource Identification Initiative To cite this cell line use: GM07371 (RRID:CVCL_W727)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 22965; PEX26; Simple; p.Leu12Profs*103 (c.34dupC) (T35insC); ClinVar=VCV000002154; Zygosity=Homozygous (PubMed=12851857).
Disease Peroxisome biogenesis disorder 7A (NCIt: C155760)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W726 ! GM07370
Sex of cell Female
Age at sampling 3W
Category Finite cell line
Publications

PubMed=12851857; DOI=10.1086/377004
Matsumoto N., Tamura S., Furuki S., Miyata N., Moser A., Shimozawa N., Moser H.W., Suzuki Y., Kondo N., Fujiki Y.
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Am. J. Hum. Genet. 73:233-246(2003)

Cross-references
Cell line collections (Providers) Coriell; GM07371
Cell line databases/resources CLO; CLO_0016943
Encyclopedic resources Wikidata; Q54842698
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number12