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Cellosaurus iPSC DKC1 Del37 #1 (CVCL_UG51)

[Text version]
Cell line name iPSC DKC1 Del37 #1
Synonyms Del37 #1; Del371
Accession CVCL_UG51
Resource Identification Initiative To cite this cell line use: iPSC DKC1 Del37 #1 (RRID:CVCL_UG51)
Comments Population: Caucasian.
Omics: Transcriptome analysis by microarray.
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 (PubMed=25992652).
Disease Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7336 (GM01774)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

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
Encyclopedic resources Wikidata; Q94323338
Gene expression databases GEO; GSM1633296
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number8