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Cellosaurus BUCREMi002-A (CVCL_YE46)

[Text version]
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: Transcriptome analysis by 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
Ferrer C.M., Alders M., Postma A.V., Park S., Klein M.A., Cetinbas M., Pajkrt E., Glas A., van Koningsbruggen S., Christoffels V.M., Mannens M.M.A.M., Knegt L., Etchegaray J.-P., Sadreyev R.I., Denu J.M., Mostoslavsky G., van Maarle M.C., Mostoslavsky R.
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 update19-Dec-2024
Version number8