ID   IGGi006-A
AC   CVCL_E8AZ
DR   BioSamples; SAMEA115597188
DR   hPSCreg; IGGi006-A
RX   PubMed=40112765;
CC   From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6743; CAPRIN1; Simple; p.Gln582Ter (c.1744C>T); ClinVar=VCV003069142; Zygosity=Heterozygous (PubMed=40112765).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C215155; Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
DI   ORDO; Orphanet_528084; Non-specific syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=40112765; DOI=10.1016/j.scr.2025.103696;
RA   Conteduca G., Baldo C., Arado A., da Silva J.S.M., Bocciardi R.,
RA   Testa B., Baldassari S., Mancardi M.M., Zara F., Malacarne M.,
RA   Coviello D.A.;
RT   "Derivation of the IGGi006-A stem cell line from a patient with
RT   CAPRIN1 haploinsufficiency.";
RL   Stem Cell Res. 85:103696-103696(2025).
//