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Cellosaurus 1581 (CVCL_B3UV)

[Text version]
Cell line name 1581
Accession CVCL_B3UV
Resource Identification Initiative To cite this cell line use: 1581 (RRID:CVCL_B3UV)
Comments From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2153; CNGB3; Simple; c.1663-2137C>T (chr8:g.87618576G>A); ClinVar=VCV000635823; Zygosity=Heterozygous; Note=Incorporates cryptic exon 14b (PubMed=32011687).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=30567931; DOI=10.1242/dev.171686; PMCID=PMC6340149
Capowski E.E., Samimi K., Mayerl S.J., Phillips M.J., Pinilla I., Howden S.E., Saha J., Jansen A.D., Edwards K.L., Jager L.D., Barlow K., Valiauga R., Erlichman Z., Hagstrom A., Sinha D., Sluch V.M., Chamling X., Zack D.J., Skala M.C., Gamm D.M.
Reproducibility and staging of 3D human retinal organoids across multiple pluripotent stem cell lines.
Development 146:dev171686.1-dev171686.13(2019)

PubMed=32011687; DOI=10.1093/hmg/ddaa016; PMCID=PMC7158377
Bronstein R., Capowski E.E., Mehrotra S., Jansen A.D., Navarro-Gomez D., Maher M., Place E.M., Sangermano R., Bujakowska K.M., Gamm D.M., Pierce E.A.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Hum. Mol. Genet. 29:967-979(2020)

Cross-references
Encyclopedic resources Wikidata; Q110429695
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6