Cellosaurus cell line iPSC DKC1 Q31E (CVCL

Cross-references
Cell line name	iPSC DKC1 Q31E
Synonyms	Q31E
Accession	CVCL_UG53
Resource Identification Initiative	To cite this cell line use: iPSC DKC1 Q31E (RRID:CVCL_UG53)
Comments	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; HGNC:2890; DKC1; Simple; p.Gln31Glu (c.91C>G); ClinVar=VCV000038954; Zygosity=Hemizygous (PubMed=25992652).
Disease	Dyskeratosis congenita (NCIt: C111802) Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=25992652; DOI=10.1371/journal.pone.0127414; PMCID=PMC4436374 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)
Encyclopedic resources	Wikidata; Q94323344
Gene expression databases	GEO; GSM1633298
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	9