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Cellosaurus BUCREMi002-A (CVCL_YE46)

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Cell line name BUCREMi002-A
Synonyms iPSC-S6D63H-3-hom; iPSC-S6D63H-3hom; Fetus Hom #3
Accession CVCL_YE46
Resource Identification Initiative To cite this cell line use: BUCREMi002-A (RRID:CVCL_YE46)
Comments From: Boston University; Boston; USA.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Cell type: Amniocyte; CL=CL_0002323.
Sequence variations
  • Mutation; HGNC; HGNC:14934; SIRT6; Simple; p.Asp63His (c.187G>C); Zygosity=Homozygous (PubMed=29555651).
Disease Perinatal mortality (NCIt: C118676)
Lethal brain and heart developmental defects (ORDO: Orphanet_580933)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27FW
Category Induced pluripotent stem cell
Publications

PubMed=29555651; DOI=10.1101/gad.307330.117; PMCID=PMC5900711
Christina M. Ferrer, Marielle Alders, Alex V. Postma, Seonmi Park, Mark A. Klein, Murat Cetinbas, Eva Pajkrt, Astrid Glas, Silvana van Koningsbruggen, Vincent M. Christoffels, Marcel M.A.M. Mannens ...Show all 18 authors... , Lia Knegt, Jean-Pierre Etchegaray, Ruslan I. Sadreyev, John M. Denu, Gustavo Mostoslavsky, Merel C. van Maarle, Raul Mostoslavsky; Show fewer authors
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes Dev. 32:373-388(2018)

Cross-references
Cell line databases/resources hPSCreg; BUCREMi002-A
Biological sample resources BioSamples; SAMEA6324161
Encyclopedic resources Wikidata; Q93433173
Entry history
Entry creation19-Dec-2019
Last entry update10-Apr-2025
Version number9