ID   LEIi009-A
AC   CVCL_UK24
SY   1374ips1; 1374IPSC_1P10
DR   hPSCreg; LEIi009-A
DR   Wikidata; Q95982057
RX   PubMed=30611018;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Aboriginal Australian.
CC   Sequence variation: Mutation; HGNC; 15446; PRPF31; Simple; p.Ser402Ter (c.1205C>A); ClinVar=VCV002419172; Zygosity=Heterozygous (PubMed=30611018).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30611018; DOI=10.1016/j.scr.2018.11.018;
RA   McLenachan S., Zhang D., Zhang X., Chen S.-C., Lamey T.M.,
RA   Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Chen F.K.;
RT   "Generation of two induced pluripotent stem cell lines from a patient
RT   with dominant PRPF31 mutation and a related non-penetrant carrier.";
RL   Stem Cell Res. 34:101357-101357(2019).
//