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Cellosaurus GM06331 (CVCL_N052)

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Cell line name GM06331
Synonyms GM06331A; GM17381
Accession CVCL_N052
Resource Identification Initiative To cite this cell line use: GM06331 (RRID:CVCL_N052)
Comments Part of: Human variation panel.
Population: Moroccan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:16002; MPLKIP; Simple; p.Gly46Glufs*13 (c.137_138delGG) (187_188delGG); ClinVar=VCV000001845; Zygosity=Homozygous (Coriell=GM06331).
Disease Trichothiodystrophy 4, nonphotosensitive (NCIt: C146899)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM06331
Coriell; GM17381
Cell line databases/resources CLO; CLO_0012202
CLO; CLO_0023079
Encyclopedic resources Wikidata; Q54842259
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number17