ID   LEIi015-B
AC   CVCL_A4CP
SY   1042ips4
DR   hPSCreg; LEIi015-B
DR   Wikidata; Q105509882
RX   PubMed=33429167;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:30859; SNRNP200; Simple; p.Arg598Cys (c.1792C>T); ClinVar=VCV000839536; Zygosity=Heterozygous (PubMed=33429167).
CC   Sequence variation: Mutation; HGNC; HGNC:30859; SNRNP200; Simple; p.Leu1114Pro (c.3341T>C); Zygosity=Heterozygous (PubMed=33429167).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4CN ! LEIi015-A
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33429167; DOI=10.1016/j.scr.2020.102154;
RA   Zhang D., McLenachan S., Chen S.-C., Zaw K., Alziyadat Y., Zhang X.,
RA   Lamey T.M., Thompson J.A., McLaren T.L., Mellough C.B., De Roach J.N.,
RA   Chen F.K.;
RT   "Generation of two induced pluripotent stem cell lines from a patient
RT   with recessive inherited retinal disease caused by compound
RT   heterozygous mutations in SNRNP200.";
RL   Stem Cell Res. 51:102154-102154(2021).
//