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Cellosaurus BGUi004-A (CVCL_A9XA)

[Text version]

Cell line name BGUi004-A
Synonyms BGU101iCCHS
Accession CVCL_A9XA
Resource Identification Initiative To cite this cell line use: BGUi004-A (RRID:CVCL_A9XA)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Jewish; Ashkenazi.
Miscellaneous: Established from monozygotic twin of BGUi005-A (CVCL_A9XB).
Derived from sampling site: Skin.
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; BGUi004-A
Biological sample resources BioSamples; SAMEA8072981
Other Wikidata; Q102113618
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3