ID   1580
AC   CVCL_B3UU
DR   Wikidata; Q110429692
RX   PubMed=30567931;
RX   PubMed=32011687;
CC   From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2153; CNGB3; Simple; p.Thr383Ilefs*13 (c.1148delC); ClinVar=VCV000005225; Zygosity=Heterozygous (PubMed=32011687).
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.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
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).
//