ID   HPSI0114i-kolf_2
AC   CVCL_AE29
SY   WTSIi018-B; KOLF2
DR   ArrayExpress; E-MTAB-4057
DR   BioSamples; SAMEA2547615
DR   ECACC; 77650100
DR   HipSci; HPSI0114i-kolf_2
DR   hPSCreg; WTSIi018-B
DR   SKIP; SKIP002605
DR   Wikidata; Q54890431
RX   PubMed=28489815;
RX   PubMed=31216442;
RX   PubMed=31813827;
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; 18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442; PubMed=31813827).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
CC   Omics: Deep exome analysis.
CC   Omics: Deep proteome 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_JM73 ! HPSI0114i-kolf_1
OI   CVCL_AE30 ! HPSI0114i-kolf_3
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 14
//
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=31216442; DOI=10.1016/j.ymeth.2019.06.016;
RA   Skarnes W.C., Pellegrino E., McDonough J.A.;
RT   "Improving homology-directed repair efficiency in human stem cells.";
RL   Methods 164:18-28(2019).
//
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).
//