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Cellosaurus GM06813 (CVCL_AD70)

[Text version]
Cell line name GM06813
Synonyms GM-06813
Accession CVCL_AD70
Resource Identification Initiative To cite this cell line use: GM06813 (RRID:CVCL_AD70)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7448; MTM1; Simple; p.Tyr198Asnfs*52 (c.592_594delinsAA) (646delT and 648C>A); Zygosity=Hemizygous (PubMed=9305655).
Disease X-linked centronuclear myopathy (NCIt: C118781)
X-linked centronuclear myopathy (ORDO: Orphanet_596)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9305655; DOI=10.1093/hmg/6.9.1505
Laporte J., Guiraud-Chaumeil C., Vincent M.-C., Mandel J.-L., Tanner S.M., Liechti-Gallati S., Wallgren-Pettersson C., Dahl N., Kress W., Bolhuis P.A., Fardeau M., Samson F., Bertini E.
ENMC International Consortium on Myotubular Myopathy
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy.
Hum. Mol. Genet. 6:1505-1511(1997)

Cross-references
Cell line collections (Providers) Coriell; GM06813
Cell line databases/resources CLO; CLO_0036532
Encyclopedic resources Wikidata; Q54842343
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number10