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Cellosaurus PGPC1_73 (CVCL_B5NA)

[Text version]
Cell line name PGPC1_73
Synonyms Personal Genome Project Canada 1 clone 73
Accession CVCL_B5NA
Resource Identification Initiative To cite this cell line use: PGPC1_73 (RRID:CVCL_B5NA)
Comments Population: Caucasian.
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3581; BPTF; Simple; p.Lys1039Ter (c.3115A>T); Zygosity=Heterozygous (PubMed=31813827).
  • Mutation; HGNC; HGNC:3039; DSCAM; Simple; c.509-1G>A; dbSNP=rs1569089053; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31813827).
  • Mutation; HGNC; HGNC:4199; GCN1; Simple; p.Ser2475Profs*19 (c.7423delT); Zygosity=Heterozygous (PubMed=31813827).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B5N8 ! PGPC1_30
CVCL_B5N9 ! PGPC1_67
CVCL_B5NB ! PGPC1_96
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003; PMCID=PMC6915802
Hildebrandt M.R., Reuter M.S., Wei W., Tayebi N., Liu J.-J., Sharmin S., Mulder J., Lesperance L.S., Brauer P.M., Mok R.S.-F., Kinnear C., Piekna A., Romm A., Howe J., Pasceri P., Meng G.-L., Rozycki M., Rodrigues D.C., Martinez E.C., Szego M.J., Zuniga-Pflucker J.C., Anderson M.K., Prescott S.A., Rosenblum N.D., Kamath B.M., Mital S., Scherer S.W., Ellis J.
Precision health resource of control iPSC lines for versatile multilineage differentiation.
Stem Cell Reports 13:1126-1141(2019)

Cross-references
Encyclopedic resources Wikidata; Q112129506
Gene expression databases GEO; GSM4087812
Sequence databases EGA; EGAS00001003684
Entry history
Entry creation17-Mar-2022
Last entry update10-Apr-2025
Version number7