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Cellosaurus BGUi005-A (CVCL_A9XB)

[Text version]
Cell line name BGUi005-A
Synonyms BGU102iCCHS
Accession CVCL_A9XB
Resource Identification Initiative To cite this cell line use: BGUi005-A (RRID:CVCL_A9XB)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Jewish; Ashkenazi.
Donor information: Established from monozygotic twin of BGUi004-A (Cellosaurus=CVCL_A9XA).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9143; PHOX2B; Simple; p.Ala260(5_9) (c.765_779dup); ClinVar=VCV000006008; Zygosity=Heterozygous (PubMed=32822965).
Disease Congenital central hypoventilation (NCIt: C98889)
Ondine syndrome (ORDO: Orphanet_661)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=32822965; DOI=10.1016/j.scr.2020.101955
Falik D., Rabinski T., Zlotnik D., Eshel R., Zorsky M., Garin-Shkolnik T., Ofir R., Adato A., Ashkenazi A., Vatine G.D.
Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene.
Stem Cell Res. 48:101955-101955(2020)

Cross-references
Cell line databases/resources hPSCreg; BGUi005-A
Biological sample resources BioSamples; SAMEA8072982
Encyclopedic resources Wikidata; Q102113621
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number7