ID   WMUi031-A
AC   CVCL_A7KS
SY   LS-UiPSC
DR   hPSCreg; WMUi031-A
DR   Wikidata; Q107117486
RX   PubMed=33765594;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8108; OCRL; Simple; p.Met876Asnfs (c.2626dupA); Zygosity=Hemizygous (PubMed=33765594).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84940; Oculocerebrorenal syndrome
DI   ORDO; Orphanet_534; Oculocerebrorenal syndrome of Lowe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33765594; DOI=10.1016/j.scr.2021.102294;
RA   Qian R.-C., Wang L., Chen H.-H., Ding Y.-J., Wang D.-X., Chen C.-D.,
RA   Chu M.-P., Shan X.-O., Guo X.-L.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation
RT   (c.2626dupA).";
RL   Stem Cell Res. 53:102294-102294(2021).
//