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Cellosaurus BGUi009-B (CVCL_A8XF)

[Text version]
Cell line name BGUi009-B
Synonyms DCM-O7
Accession CVCL_A8XF
Resource Identification Initiative To cite this cell line use: BGUi009-B (RRID:CVCL_A8XF)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Bedouin.
Derived from site: In situ; Connective tissue; UBERON=UBERON_0002384.
Sequence variations
  • Mutation; HGNC; HGNC:29131; PLEKHM2; Simple; p.Lys645Alafs*12 (c.1932_1933delAG) (c.2156_2157delAG); ClinVar=VCV000253148; Zygosity=Homozygous (PubMed=34088011).
Disease Left ventricular non-compaction syndrome (NCIt: C99544)
Left ventricular noncompaction (ORDO: Orphanet_54260)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4ZM ! BGUi009-A
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=34088011; DOI=10.1016/j.scr.2021.102382
Ben-Zvi H., Korover N., Rabinski T., Ofir R., Cohen S.
Generation and characterization of three human induced pluripotent stem cell lines (iPSC) from two family members with dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one healthy heterozygote sibling.
Stem Cell Res. 53:102382-102382(2021)

Cross-references
Encyclopedic resources Wikidata; Q108819933
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5