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Cellosaurus GM13434 (CVCL_5P75)

[Text version]
Cell line name GM13434
Accession CVCL_5P75
Resource Identification Initiative To cite this cell line use: GM13434 (RRID:CVCL_5P75)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Thr118_Val166del (c.352_499del); Zygosity=Hemizygous (PubMed=7539213).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=7539213; DOI=10.1002/ajmg.1320550404
Dawn Olson Kleindorfer, Stephen R. Dlouhy, Victoria M. Pratt, Marylin C. Jones, James A. Trofatter, Marion Edward Hodes;
In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
Am. J. Med. Genet. 55:405-407(1995)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM13434
Cell line databases/resources CLO; CLO_0012675
Encyclopedic resources Wikidata; Q54846524
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number12