ID   IGGi001-A
AC   CVCL_C7FT
DR   BioSamples; SAMEA113595389
DR   hPSCreg; IGGi001-A
DR   Wikidata; Q117704522
RX   PubMed=36580887;
CC   From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Gene deletion; HGNC; 14234; NSD1; Zygosity=Unspecified; Note=5q35.2q35.3 microdeletion (PubMed=36580887).
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)
OI   CVCL_C7FU ! IGGi001-B
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 02-05-24; Version: 4
//
RX   PubMed=36580887; DOI=10.1016/j.scr.2022.103007;
RA   Conteduca G., Baldo C., Arado A., Traverso M., Testa B., Malacarne M.,
RA   Coviello D.A., Zara F., Baldassari S.;
RT   "Generation of induced pluripotent stem cell lines from a patient with
RT   Sotos syndrome carrying 5q35 microdeletion.";
RL   Stem Cell Res. 66:103007-103007(2023).
//