Cellosaurus logo
expasy logo

Cellosaurus GM01775 (CVCL_D515)

[Text][XML][JSON]
Cell line name GM01775
Synonyms GM-1775; GM01775A
Accession CVCL_D515
Resource Identification Initiative To cite this cell line use: GM01775 (RRID:CVCL_D515)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Hemizygous (Coriell=GM01775).
Disease Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7336 ! GM01774
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM01775
Cell line databases/resources CLO; CLO_0031004
Biological sample resources BioSample; SAMN00807155
Encyclopedic resources Wikidata; Q54837068
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number20