ID   1581
AC   CVCL_B3UV
DR   Wikidata; Q110429695
RX   PubMed=30567931;
RX   PubMed=32011687;
CC   From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
CC   Sequence variation: 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).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=30567931; DOI=10.1242/dev.171686; PMCID=PMC6340149;
RA   Capowski E.E., Samimi K., Mayerl S.J., Phillips M.J., Pinilla I.,
RA   Howden S.E., Saha J., Jansen A.D., Edwards K.L., Jager L.D.,
RA   Barlow K., Valiauga R., Erlichman Z., Hagstrom A., Sinha D.,
RA   Sluch V.M., Chamling X., Zack D.J., Skala M.C., Gamm D.M.;
RT   "Reproducibility and staging of 3D human retinal organoids across
RT   multiple pluripotent stem cell lines.";
RL   Development 146:dev171686.1-dev171686.13(2019).
//
RX   PubMed=32011687; DOI=10.1093/hmg/ddaa016; PMCID=PMC7158377;
RA   Bronstein R., Capowski E.E., Mehrotra S., Jansen A.D.,
RA   Navarro-Gomez D., Maher M., Place E.M., Sangermano R., Bujakowska K.M.,
RA   Gamm D.M., Pierce E.A.;
RT   "A combined RNA-seq and whole genome sequencing approach for
RT   identification of non-coding pathogenic variants in single families.";
RL   Hum. Mol. Genet. 29:967-979(2020).
//