ID   SDUBMSi009-A
AC   CVCL_A4XW
DR   hPSCreg; SDUBMSi009-A
DR   Wikidata; Q107116905
RX   PubMed=33540283;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:8108; OCRL; Simple; c.940-11G>A; ClinVar=VCV000279859; Zygosity=Hemizygous (PubMed=33540283).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84940; Oculocerebrorenal syndrome
DI   ORDO; Orphanet_534; Oculocerebrorenal syndrome of Lowe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33540283; DOI=10.1016/j.scr.2021.102171;
RA   Liu X.-L., Liu Y., Ma Y.-Y., Gong Y.-Q., Liu Q.-J., Sun W.-J., Guo H.;
RT   "Establishment of patient-specific induced pluripotent stem cell line
RT   SDUBMSi009-A from a patient with X-linked Lowe syndrome.";
RL   Stem Cell Res. 51:102171-102171(2021).
//