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Cellosaurus BGUi006-A (CVCL_A4ZJ)

[Text version]
Cell line name BGUi006-A
Synonyms BGU06iFD_CTR; BGU06iFDN CTR
Accession CVCL_A4ZJ
Resource Identification Initiative To cite this cell line use: BGUi006-A (RRID:CVCL_A4ZJ)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Heterozygous (PubMed=34419746).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Web pages https://www.vatinelab.com/about-3
Publications

PubMed=34419746; DOI=10.1016/j.scr.2021.102495
Dor L., Rabinski T., Zlotnik D., Shilian M., Weil M., Vatine G.D.
Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia.
Stem Cell Res. 55:102495-102495(2021)

Cross-references
Cell line databases/resources hPSCreg; BGUi006-A
Encyclopedic resources Wikidata; Q107113452
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7