Cellosaurus cell line IGGi006-A (CVCL

Cross-references
Cell line name	IGGi006-A
Accession	CVCL_E8AZ
Resource Identification Initiative	To cite this cell line use: IGGi006-A (RRID:CVCL_E8AZ)
Comments	From: IRCCS Istituto Giannina Gaslini; Genova; Italy. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6743; CAPRIN1; Simple; p.Gln582Ter (c.1744C>T); ClinVar=VCV003069142; Zygosity=Heterozygous (PubMed=40112765).
Disease	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (NCIt: C215155) Non-specific syndromic intellectual disability (ORDO: Orphanet_528084)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=40112765; DOI=10.1016/j.scr.2025.103696 Conteduca G., Baldo C., Arado A., da Silva J.S.M., Bocciardi R., Testa B., Baldassari S., Mancardi M.M., Zara F., Malacarne M., Coviello D.A. Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency. Stem Cell Res. 85:103696-103696(2025)
Cell line databases/resources	hPSCreg; IGGi006-A
Biological sample resources	BioSamples; SAMEA115597188
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1