ID   HPSI0514i-letw_5
AC   CVCL_EE95
SY   WTSIi253-A
DR   ArrayExpress; E-MTAB-4057
DR   BioSamples; SAMEA3967410
DR   ECACC; 77650396
DR   HipSci; HPSI0514i-letw_5
DR   hPSCreg; WTSIi253-A
DR   Wikidata; Q54890905
RX   PubMed=28489815;
RX   PubMed=35933957;
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 (PubMed=35933957).
CC   Omics: Deep exome 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_EE94 ! HPSI0514i-letw_1
SX   Male
AG   70-74Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 14
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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).
//
RX   PubMed=35933957; DOI=10.1016/j.scr.2022.102880;
RA   Liu J.-S., Black G.C., Kimber S.J., Sergouniotis P.I.;
RT   "Generation of a human induced pluripotent stem cell line carrying the
RT   TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in
RT   homozygous state using CRISPR-Cas9 genome editing.";
RL   Stem Cell Res. 64:102880-102880(2022).
//