ID   HPSI0514i-letw_1
AC   CVCL_EE94
SY   WTSIi253-B; WTSIi323-A
DR   ArrayExpress; E-MTAB-4057
DR   BioSamples; SAMEA3962566
DR   ECACC; 77650394
DR   HipSci; HPSI0514i-letw_1
DR   hPSCreg; WTSIi253-B
DR   Wikidata; Q54890904
RX   PubMed=28489815;
CC   From: Cambridge BioResource; Cambridge; United Kingdom.
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (from autologous cell line HPSI0514i-letw_5).
CC   Omics: Deep exome analysis.
CC   Omics: Deep proteome analysis.
CC   Omics: DNA methylation analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by microarray.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EE95 ! HPSI0514i-letw_5
SX   Male
AG   70-74Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 15
//
RX   PubMed=28489815; DOI=10.1038/nature22403;
RA   Kilpinen H., Goncalves A., Leha A., Afzal V., Alasoo K., Ashford S.,
RA   Bala S., Bensaddek D., Casale F.P., Culley O.J., Danecek P.,
RA   Faulconbridge A., Harrison P.W., Kathuria A., McCarthy D.,
RA   McCarthy S.A., Meleckyte R., Memari Y., Moens N., Soares F., Mann A.,
RA   Streeter I., Agu C.A., Alderton A., Nelson R., Harper S., Patel M.J.,
RA   White A., Patel S.R., Clarke L., Halai R., Kirton C.M.,
RA   Kolb-Kokocinski A., Beales P., Birney E., Danovi D., Lamond A.I.,
RA   Ouwehand W.H., Vallier L., Watt F.M., Durbin R., Stegle O.,
RA   Gaffney D.J.;
RT   "Common genetic variation drives molecular heterogeneity in human
RT   iPSCs.";
RL   Nature 546:370-375(2017).
//