ID   IBMS-iPSC-013-07
AC   CVCL_RP79
DR   BCRC; SC81044
DR   BCRC; SC81045
DR   SKIP; SKIP005631
DR   SKIP; SKIP005632
DR   Wikidata; Q54897191
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 9008; PKD1; Simple; p.Gln533Ter (c.1597C>T); Zygosity=Heterozygous (from autologous cell line IBMS-iPSC-013-06).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_QY05 ! IBMS-iPSC-013-06
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 10
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