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Cellosaurus AOUMEYi002-A (CVCL_D6IC)

[Text version]
Cell line name AOUMEYi002-A
Accession CVCL_D6IC
Resource Identification Initiative To cite this cell line use: AOUMEYi002-A (RRID:CVCL_D6IC)
Comments From: Meyer Children's Hospital IRCCS; Firenze; Italy.
Population: Caucasian.
Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10872; ST3GAL5; Simple; p.Gly342Ser (c.1024G>A); ClinVar=VCV000828145; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38703669).
  • Mutation; HGNC; HGNC:10872; ST3GAL5; Simple; p.His389Arg (c.1166A>G); Zygosity=Heterozygous (PubMed=38703669).
Disease Salt and pepper developmental regression syndrome (NCIt: C206525)
GM3 synthase deficiency (ORDO: Orphanet_370933)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=38703669; DOI=10.1016/j.scr.2024.103431
Tonin R., Feo F., Falliano S., Giunti L., Calamai M., Procopio E., Mari F., Sciruicchio V., Conti V., Fanelli I., Bambi F., Guerrini R., Morrone A.
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.
Stem Cell Res. 77:103431-103431(2024)

Cross-references
Cell line databases/resources hPSCreg; AOUMEYi002-A
Biological sample resources BioSamples; SAMEA115493381
Encyclopedic resources Wikidata; Q127380235
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3