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Cellosaurus UMILi028-A (CVCL_C0IE)

[Text version]
Cell line name UMILi028-A
Accession CVCL_C0IE
Resource Identification Initiative To cite this cell line use: UMILi028-A (RRID:CVCL_C0IE)
Comments From: University of Milan; Milan; Italy.
Population: Caucasian.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
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=35421844).
Disease Congenital central hypoventilation (NCIt: C98889)
Ondine syndrome (ORDO: Orphanet_661)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=35421844; DOI=10.1016/j.scr.2022.102781
Cuadros Gamboa A.L., Benfante R., Nizzardo M., Bachetti T., Pelucchi P., Melzi V., Arzilli C., Peruzzi M., Reinbold R.A., Cardani S., Morrone A., Guerrini R., Zucchi I., Corti S., Ceccherini I., Piumelli R., Nassi N., Di Lascio S., Fornasari D.
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset congenital central hypoventilation syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Stem Cell Res. 61:102781-102781(2022)

Cross-references
Cell line databases/resources hPSCreg; UMILi028-A
Biological sample resources BioSamples; SAMEA13565938
Encyclopedic resources Wikidata; Q112930521
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4