Cellosaurus logo
expasy logo

Cellosaurus GM01774 (CVCL_7336)

[Text version]
Cell line name GM01774
Synonyms GM-1774; GM01774A
Accession CVCL_7336
Resource Identification Initiative To cite this cell line use: GM01774 (RRID:CVCL_7336)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Hemizygous (Coriell=GM01774).
Disease Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UG51 (iPSC DKC1 Del37 #1)CVCL_UG52 (iPSC DKC1 Del37 #2)
Originate from same individual CVCL_D515 ! GM01775
Sex of cell Male
Age at sampling 7Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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

PubMed=25992652; DOI=10.1371/journal.pone.0127414
Gu B.-W., Apicella M., Mills J.A., Fan J.-M., Reeves D.A., French D.L., Podsakoff G.M., Bessler M., Mason P.J.
Impaired telomere maintenance and decreased canonical WNT signaling but normal ribosome biogenesis in induced pluripotent stem cells from X-linked dyskeratosis congenita patients.
PLoS ONE 10:E0127414-E0127414(2015)

Cross-references
Cell line collections (Providers) Coriell; GM01774
Cell line databases/resources CLO; CLO_0031003
Biological sample resources BioSample; SAMN00807153
Encyclopedic resources Wikidata; Q54837067
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number18