ID   AOUMEYi002-A
AC   CVCL_D6IC
DR   BioSamples; SAMEA115493381
DR   hPSCreg; AOUMEYi002-A
DR   Wikidata; Q127380235
RX   PubMed=38703669;
CC   From: Meyer Children's Hospital IRCCS; Firenze; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10872; ST3GAL5; Simple; p.Gly342Ser (c.1024G>A); ClinVar=VCV000828145; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38703669).
CC   Sequence variation: Mutation; HGNC; HGNC:10872; ST3GAL5; Simple; p.His389Arg (c.1166A>G); Zygosity=Heterozygous (PubMed=38703669).
CC   Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206525; Salt and pepper developmental regression syndrome
DI   ORDO; Orphanet_370933; GM3 synthase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38703669; DOI=10.1016/j.scr.2024.103431;
RA   Tonin R., Feo F., Falliano S., Giunti L., Calamai M., Procopio E.,
RA   Mari F., Sciruicchio V., Conti V., Fanelli I., Bambi F., Guerrini R.,
RA   Morrone A.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   patient with GM3 synthase deficiency using self-replicating RNA
RT   vector.";
RL   Stem Cell Res. 77:103431-103431(2024).
//