ID   CSUASOi006-A
AC   CVCL_ZX46
SY   RP-PRPF8; PRPF8-UiPS
DR   hPSCreg; CSUASOi006-A
DR   Wikidata; Q102113728
RX   PubMed=33157387;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:17340; PRPF8; Simple; p.Thr1931Met (c.5792C>T); ClinVar=VCV000867014; Zygosity=Unspecified (PubMed=33157387).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33157387; DOI=10.1016/j.scr.2020.102041;
RA   Zhou Y.-L., Cui Z.-K., Jing Y.-T., Mao S.-R., Chen D.-L., Ding C.-C.,
RA   Gu J.-N., Chan H.-F., Tang S.-B., Chen J.-S.;
RT   "Establishment of non-integrate induced pluripotent stem cell line
RT   CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant
RT   retinitis pigmentosa patient.";
RL   Stem Cell Res. 49:102041-102041(2020).
//