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Cellosaurus HPSI0514i-letw_1 (CVCL_EE94)

[Text version]
Cell line name HPSI0514i-letw_1
Synonyms WTSIi253-B; WTSIi323-A
Accession CVCL_EE94
Resource Identification Initiative To cite this cell line use: HPSI0514i-letw_1 (RRID:CVCL_EE94)
Comments From: Cambridge BioResource; Cambridge; United Kingdom.
From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
Population: Caucasian; British.
Omics: Deep exome analysis.
Omics: Deep proteome analysis.
Omics: DNA methylation analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (from autologous cell line HPSI0514i-letw_5).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EE95 ! HPSI0514i-letw_5
Sex of cell Male
Age at sampling 70-74Y
Category Induced pluripotent stem cell
Publications

PubMed=28489815; DOI=10.1038/nature22403; PMCID=PMC5524171
Kilpinen H., Goncalves A., Leha A., Afzal V., Alasoo K., Ashford S., Bala S., Bensaddek D., Casale F.P., Culley O.J., Danecek P., Faulconbridge A., Harrison P.W., Kathuria A., McCarthy D., McCarthy S.A., Meleckyte R., Memari Y., Moens N., Soares F., Mann A., Streeter I., Agu C.A., Alderton A., Nelson R., Harper S., Patel M.J., White A., Patel S.R., Clarke L., Halai R., Kirton C.M., Kolb-Kokocinski A., Beales P., Birney E., Danovi D., Lamond A.I., Ouwehand W.H., Vallier L., Watt F.M., Durbin R., Stegle O., Gaffney D.J.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 546:370-375(2017)

Cross-references
Cell line collections (Providers) ECACC; 77650394
Cell line databases/resources HipSci; HPSI0514i-letw_1
hPSCreg; WTSIi253-B
Biological sample resources BioSamples; SAMEA3962566
Encyclopedic resources Wikidata; Q54890904
Gene expression databases ArrayExpress; E-MTAB-4057
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number15