ID   SZ-PKD1
AC   CVCL_YL61
SY   SZ-PKD1 PGD; PKD#1
DR   NIHhESC; NIHhESC-20-0473
DR   Wikidata; Q98133038
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0473.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; c.8433_8438delinsGCCC; Zygosity=Unspecified (Direct_author_submission).
CC   Miscellaneous: Sequence variation from personal communication of Eiges, Rachel.
CC   Misspelling: SZ-PDK1; NIHhESC=NIHhESC-20-0473; Note=Prior to 2022.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//