ID   LEIi011-C
AC   CVCL_XI41
SY   1466ips3
DR   hPSCreg; LEIi011-C
DR   Wikidata; Q95982063
RX   PubMed=31494449;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Chinese; Singaporian.
CC   Sequence variation: Mutation; HGNC; HGNC:18243; RCBTB1; Simple; p.Gly57Glufs*12 (c.170delG); ClinVar=VCV000840798; Zygosity=Heterozygous (PubMed=31494449).
CC   Sequence variation: Mutation; HGNC; HGNC:18243; RCBTB1; Simple; p.Asn236Thrfs*11 (c.707delA); ClinVar=VCV000224622; Zygosity=Heterozygous (PubMed=31494449).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C164155; Retinal dystrophy with or without extraocular anomalies
DI   ORDO; Orphanet_99002; Reticular dystrophy of the retinal pigment epithelium
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XI39 ! LEIi011-A
OI   CVCL_XI40 ! LEIi011-B
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31494449; DOI=10.1016/j.scr.2019.101549;
RA   Huang Z.-Q., Zhang D., Chen S.-C., Thompson J.A., McLaren T.L.,
RA   Lamey T.M., De Roach J.N., McLenachan S., Chen F.K.;
RT   "Generation of three induced pluripotent stem cell lines from an
RT   isolated inherited retinal dystrophy patient with RCBTB1 frameshifting
RT   mutations.";
RL   Stem Cell Res. 40:101549-101549(2019).
//