ID   CUIMCi004-A-1
AC   CVCL_D0DV
SY   1514_1 #1 CL25
DR   BioSamples; SAMEA114396364
DR   hPSCreg; CUIMCi004-A-1
DR   Wikidata; Q123030983
CC   From: Columbia University Irving Medical Center; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8108; OCRL; Simple_corrected; p.Leu713Argfs*28 (c.2136_2139del+1insCT); Zygosity=Hemizygous (hPSCreg=CUIMCi004-A-1).
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)
HI   CVCL_B5SL ! CUIMCi004-A
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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