ID   UMILi028-A
AC   CVCL_C0IE
DR   BioSamples; SAMEA13565938
DR   hPSCreg; UMILi028-A
DR   Wikidata; Q112930521
RX   PubMed=35421844;
CC   From: University of Milan; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9143; PHOX2B; Simple; p.Ala260(5_9) (c.765_779dup); ClinVar=VCV000006008; Zygosity=Heterozygous (PubMed=35421844).
CC   Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
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   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35421844; DOI=10.1016/j.scr.2022.102781;
RA   Cuadros Gamboa A.L., Benfante R., Nizzardo M., Bachetti T.,
RA   Pelucchi P., Melzi V., Arzilli C., Peruzzi M., Reinbold R.A.,
RA   Cardani S., Morrone A., Guerrini R., Zucchi I., Corti S.,
RA   Ceccherini I., Piumelli R., Nassi N., Di Lascio S., Fornasari D.;
RT   "Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early
RT   and late-onset congenital central hypoventilation syndrome (CCHS)
RT   patients carrying a polyalanine expansion mutation in the PHOX2B
RT   gene.";
RL   Stem Cell Res. 61:102781-102781(2022).
//