ID   CUIMCi004-A
AC   CVCL_B5SL
SY   1514_1
DR   BioSamples; SAMEA10333981
DR   hPSCreg; CUIMCi004-A
DR   Wikidata; Q111733148
RX   PubMed=35074682;
CC   From: Columbia University Irving Medical Center; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8108; OCRL; Simple; p.Leu713Argfs*28 (c.2136_2139del+1insCT); Zygosity=Hemizygous (PubMed=35074682).
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   5Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35074682; DOI=10.1016/j.scr.2021.102635;
RA   Iannello G., Patel A.L., Sirabella D., Corneo B., Thaker V.V.;
RT   "Derivation and characterization of the induced pluripotent stem cell
RT   line CUIMCi004-A from a patient with a novel frameshift variant in
RT   exon 18a of OCRL.";
RL   Stem Cell Res. 59:102635-102635(2021).
//