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Cellosaurus UMILi027-A (CVCL_C0ID)

[Text version]
Cell line name UMILi027-A
Accession CVCL_C0ID
Resource Identification Initiative To cite this cell line use: UMILi027-A (RRID:CVCL_C0ID)
Comments From: University of Milan; Milan; Italy.
Population: Caucasian.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403.
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 40Y
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; UMILi027-A
Biological sample resources BioSamples; SAMEA13565884
Encyclopedic resources Wikidata; Q112930520
Entry history
Entry creation23-Jun-2022
Last entry update10-Sep-2024
Version number5