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, Dan
RA   McLenachan, Samuel
RA   Chen, Shang-Chih
RA   Zaw, Khine
RA   Alziyadat, Yaqin
RA   Zhang, Xiao
RA   Lamey, Tina M.
RA   Thompson, Jennifer A.
RA   McLaren, Terri L.
RA   Mellough, Carla B.
RA   De Roach, John N.
RA   Chen, Fred 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).
//