ID   BUCREMi002-A
AC   CVCL_YE46
SY   iPSC-S6D63H-3-hom; iPSC-S6D63H-3hom; Fetus Hom #3
DR   BioSamples; SAMEA6324161
DR   hPSCreg; BUCREMi002-A
DR   Wikidata; Q93433173
RX   PubMed=29555651;
CC   From: Boston University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 14934; SIRT6; Simple; p.Asp63His (c.187G>C); Zygosity=Homozygous (PubMed=29555651).
CC   Omics: Transcriptome analysis by 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   Male
AG   27FW
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=29555651; DOI=10.1101/gad.307330.117;
RA   Ferrer C.M., Alders M., Postma A.V., Park S., Klein M.A., Cetinbas M.,
RA   Pajkrt E., Glas A., van Koningsbruggen S., Christoffels V.M.,
RA   Mannens M.M.A.M., Knegt L., Etchegaray J.-P., Sadreyev R.I., Denu J.M.,
RA   Mostoslavsky G., van Maarle M.C., Mostoslavsky R.;
RT   "An inactivating mutation in the histone deacetylase SIRT6 causes
RT   human perinatal lethality.";
RL   Genes Dev. 32:373-388(2018).
//