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Cellosaurus GM06333 (CVCL_W048)

[Text version]
Cell line name GM06333
Accession CVCL_W048
Resource Identification Initiative To cite this cell line use: GM06333 (RRID:CVCL_W048)
Comments Population: Moroccan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 16002; MPLKIP; Simple; p.Gly46Glufs*13 (c.137_138delGG) (187_188delGG); ClinVar=VCV000001845; Zygosity=Homozygous (Coriell=GM06333).
Disease Trichothiodystrophy 4, nonphotosensitive (NCIt: C146899)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9M
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)

Cross-references
Cell line collections (Providers) Coriell; GM06333
Cell line databases/resources CLO; CLO_0023073
Encyclopedic resources Wikidata; Q54842261
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number14