ID   LEIi016-A
AC   CVCL_A8MG
SY   1418ips3
DR   hPSCreg; LEIi016-A
DR   Wikidata; Q108820782
RX   PubMed=34034222;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Ile852Thr (c.2555T>C); ClinVar=VCV000099883; Zygosity=Heterozygous (PubMed=34034222).
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Asp1005Val (c.3014A>T); ClinVar=VCV000846589; Zygosity=Heterozygous (PubMed=34034222).
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_A8MH ! LEIi016-B
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34034222; DOI=10.1016/j.scr.2021.102403;
RA   Moon, Sang Yoon
RA   Zhang, Dan
RA   Chen, Shang-Chih
RA   Lamey, Tina M.
RA   Thompson, Jennifer A.
RA   McLaren, Terri L.
RA   De Roach, John N.
RA   Chen, Fred K.
RA   McLenachan, Samuel
RT   "Generation of two induced pluripotent stem cell lines from a
RT   retinitis pigmentosa patient with compound heterozygous mutations in
RT   CRB1.";
RL   Stem Cell Res. 54:102403-102403(2021).
//