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Cellosaurus BGUi007-A (CVCL_A4ZK)

[Text version]
Cell line name BGUi007-A
Synonyms BGU07iFD
Accession CVCL_A4ZK
Resource Identification Initiative To cite this cell line use: BGUi007-A (RRID:CVCL_A4ZK)
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; 5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous (PubMed=34419746).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; BGUi007-A
Encyclopedic resources Wikidata; Q107113454
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5