ID   chHES-468
AC   CVCL_A4GQ
DR   Wikidata; Q105506611
RX   PubMed=27934598;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Glu3509Aspfs*117 (c.10526_10527delAG); Zygosity=Heterozygous (PubMed=27934598).
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   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=27934598; DOI=10.1016/j.scr.2016.11.001;
RA   Ouyang Q., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Sun Y.;
RT   "Human embryonic stem cells derived from abnormal blastocyst donated
RT   by polycystic kidney syndrome patient.";
RL   Stem Cell Res. 17:637-639(2016).
//