ID   BGUi004-A
AC   CVCL_A9XA
SY   BGU101iCCHS
DR   BioSamples; SAMEA8072981
DR   hPSCreg; BGUi004-A
DR   Wikidata; Q102113618
RX   PubMed=32822965;
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 9143; PHOX2B; Simple; p.Ala260(5_9) (c.765_779dup); ClinVar=VCV000006008; Zygosity=Heterozygous (PubMed=32822965).
CC   Donor information: Established from monozygotic twin of BGUi005-A (Cellosaurus=CVCL_A9XB).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98889; Congenital central hypoventilation
DI   ORDO; Orphanet_661; Ondine syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32822965; DOI=10.1016/j.scr.2020.101955;
RA   Falik D., Rabinski T., Zlotnik D., Eshel R., Zorsky M.,
RA   Garin-Shkolnik T., Ofir R., Adato A., Ashkenazi A., Vatine G.D.;
RT   "Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A)
RT   from two identical twins with polyalanine expansion in the paired-like
RT   homeobox 2B (PHOX2B) gene.";
RL   Stem Cell Res. 48:101955-101955(2020).
//