ID   iPSC DKC1 A353V #1
AC   CVCL_UG49
SY   A353V #1; A353V1
DR   GEO; GSM1633294
DR   Wikidata; Q94323331
RX   PubMed=25992652;
CC   Sequence variation: Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Ala353Val (c.1058C>T); ClinVar=VCV000011587; Zygosity=Hemizygous (PubMed=25992652).
CC   Omics: Transcriptome analysis by microarray.
CC   Misspelling: iPSC DKC1 A335V #1; Note=In Cellosaurus releases 28 to 35.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C111802; Dyskeratosis congenita
DI   ORDO; Orphanet_1775; Dyskeratosis congenita
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UG50 ! iPSC DKC1 A353V #2
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
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RX   PubMed=25992652; DOI=10.1371/journal.pone.0127414; PMCID=PMC4436374;
RA   Gu B.-W., Apicella M., Mills J.A., Fan J.-M., Reeves D.A., French D.L.,
RA   Podsakoff G.M., Bessler M., Mason P.J.;
RT   "Impaired telomere maintenance and decreased canonical WNT signaling
RT   but normal ribosome biogenesis in induced pluripotent stem cells from
RT   X-linked dyskeratosis congenita patients.";
RL   PLoS ONE 10:E0127414-E0127414(2015).
//