Cellosaurus cell line BGUi004-A (CVCL

Cross-references
Cell line name	BGUi004-A
Synonyms	BGU101iCCHS; BGU101iCCHS25
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. Donor information: Established from monozygotic twin of BGUi005-A (Cellosaurus=CVCL_A9XB). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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
Web pages	https://www.vatinelab.com/about-3
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)
Cell line databases/resources	hPSCreg; BGUi004-A
Biological sample resources	BioSamples; SAMEA8072981
Encyclopedic resources	Wikidata; Q102113618
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	9