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Cellosaurus BGUi010-A (CVCL_A4ZN)

[Text version]
Cell line name BGUi010-A
Synonyms DCM-R4; DCM-R
Accession CVCL_A4ZN
Resource Identification Initiative To cite this cell line use: BGUi010-A (RRID:CVCL_A4ZN)
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; 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_A8XJ ! BGUi010-B
Sex of cell Male
Age at sampling 16Y
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
Cell line databases/resources hPSCreg; BGUi010-A
Biological sample resources BioSamples; SAMEA8093254
Encyclopedic resources Wikidata; Q107113457
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5