ID   IGGi003-A
AC   CVCL_D6MP
DR   BioSamples; SAMEA114498470
DR   hPSCreg; IGGi003-A
DR   Wikidata; Q127382323
RX   PubMed=38301425;
CC   From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14234; NSD1; Simple; p.Thr545Argfs*10 (c.1633delA); Zygosity=Heterozygous; Note=De novo mutation (PubMed=38301425).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75019; Sotos syndrome
DI   ORDO; Orphanet_821; Sotos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38301425; DOI=10.1016/j.scr.2024.103324;
RA   Conteduca G., Baldo C., Arado A., da Silva J.S.M., Testa B.,
RA   Baldassari S., Zara F., Filaci G., Coviello D.A., Malacarne M.;
RT   "Generation of IGGi003-A induced pluripotent stem cell line from a
RT   patient with Sotos syndrome carrying c.1633delA NSD1 variant in exon
RT   5.";
RL   Stem Cell Res. 76:103324-103324(2024).
//