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Cellosaurus BGUi010-B (CVCL_A8XJ)

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Cell line name BGUi010-B
Synonyms DCM-R7
Accession CVCL_A8XJ
Resource Identification Initiative To cite this cell line use: BGUi010-B (RRID:CVCL_A8XJ)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Bedouin.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
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_A4ZN ! BGUi010-A
Sex of cell Male
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=34088011; DOI=10.1016/j.scr.2021.102382
Hadas Ben-Zvi, Nataly Korover, Tatiana Rabinski, Rivka Ofir, Smadar Cohen;
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; Q108819934
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6