ID   PGPC1_73
AC   CVCL_B5NA
SY   Personal Genome Project Canada 1 clone 73
DR   EGA; EGAS00001003684
DR   GEO; GSM4087812
DR   Wikidata; Q112129506
RX   PubMed=31813827;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3581; BPTF; Simple; p.Lys1039Ter (c.3115A>T); Zygosity=Heterozygous (PubMed=31813827).
CC   Sequence variation: Mutation; HGNC; HGNC:3039; DSCAM; Simple; c.509-1G>A; dbSNP=rs1569089053; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31813827).
CC   Sequence variation: Mutation; HGNC; HGNC:4199; GCN1; Simple; p.Ser2475Profs*19 (c.7423delT); Zygosity=Heterozygous (PubMed=31813827).
CC   Omics: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5N8 ! PGPC1_30
OI   CVCL_B5N9 ! PGPC1_67
OI   CVCL_B5NB ! PGPC1_96
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 10-04-25; Version: 7
//
RX   PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003; PMCID=PMC6915802;
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).
//