ID   BUCREMi001-A
AC   CVCL_YE45
SY   iPSC-S6D63H-1-hom; Fetus Hom #1
DR   BioSamples; SAMEA6324163
DR   hPSCreg; BUCREMi001-A
DR   Wikidata; Q93433171
RX   PubMed=29555651;
CC   From: Boston University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:14934; SIRT6; Simple; p.Asp63His (c.187G>C); Zygosity=Homozygous (PubMed=29555651).
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
CC   Cell type: Amniocyte; CL=CL_0002323.
DI   NCIt; C118676; Perinatal mortality
DI   ORDO; Orphanet_580933; Lethal brain and heart developmental defects
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20FW
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 9
//
RX   PubMed=29555651; DOI=10.1101/gad.307330.117; PMCID=PMC5900711;
RA   Ferrer, Christina M.
RA   Alders, Marielle
RA   Postma, Alex V.
RA   Park, Seonmi
RA   Klein, Mark A.
RA   Cetinbas, Murat
RA   Pajkrt, Eva
RA   Glas, Astrid
RA   van Koningsbruggen, Silvana
RA   Christoffels, Vincent M.
RA   Mannens, Marcel M.A.M.
RA   Knegt, Lia
RA   Etchegaray, Jean-Pierre
RA   Sadreyev, Ruslan I.
RA   Denu, John M.
RA   Mostoslavsky, Gustavo
RA   van Maarle, Merel C.
RA   Mostoslavsky, Raul
RT   "An inactivating mutation in the histone deacetylase SIRT6 causes
RT   human perinatal lethality.";
RL   Genes Dev. 32:373-388(2018).
//