ID   HPSI0314i-sojd_3
AC   CVCL_AE87
SY   WTSIi073-A
DR   ArrayExpress; E-MTAB-4057
DR   BioSamples; SAMEA2627569
DR   ECACC; 66540185
DR   ECACC; 77650126
DR   HipSci; HPSI0314i-sojd_3
DR   hPSCreg; WTSIi073-A
DR   SKIP; SKIP002662
DR   Wikidata; Q54890627
RX   PubMed=28489815;
RX   PubMed=31813827;
CC   From: Cambridge BioResource; Cambridge; United Kingdom.
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 20893; BCOR; Simple; p.Gln348Ter (c.1042C>T); Zygosity=Heterozygous (PubMed=31813827).
CC   Omics: Deep exome analysis.
CC   Omics: Deep proteome analysis.
CC   Omics: Deep RNAseq analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_JN04 ! HPSI0314i-sojd_1
OI   CVCL_AE86 ! HPSI0314i-sojd_2
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 23-06-22; Version: 13
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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.,
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=31813827; DOI=10.1016/j.stemcr.2019.11.003;
RA   Hildebrandt M.R., Reuter M.S., Wei W., Tayebi N., Liu J.-J., Sharmin S.,
RA   Mulder J., Lesperance L.S., Brauer P.M., Mok R.S.F., Kinnear C.,
RA   Piekna A., Romm A., Howe J., Pasceri P., Meng G.-L., Rozycki M.,
RA   Rodrigues D.C., Martinez E.C., Szego M.J., Zuniga-Pflucker J.C.,
RA   Anderson M.K., Prescott S.A., Rosenblum N.D., Kamath B.M., Mital S.,
RA   Scherer S.W., Ellis J.;
RT   "Precision health resource of control iPSC lines for versatile
RT   multilineage differentiation.";
RL   Stem Cell Reports 13:1126-1141(2019).
//