Cellosaurus cell line SCTCi035-A (CVCL

Cross-references
Cell line name	SCTCi035-A
Synonyms	iPS22-00044
Accession	CVCL_D6S6
Resource Identification Initiative	To cite this cell line use: SCTCi035-A (RRID:CVCL_D6S6)
Comments	From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands. Population: Caucasian; Dutch. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:25412; SGIP1; Simple; c.74+1G>A; dbSNP=rs1315026372; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=38739972).
Disease	Intellectual disability (NCIt: C97250)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=38739972; DOI=10.1016/j.scr.2024.103442 Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Cepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Johanna M. van Hagen, Bert B.A. de Vries, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven; Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1. Stem Cell Res. 77:103442-103442(2024)
Cell line databases/resources	hPSCreg; SCTCi035-A
Biological sample resources	BioSamples; SAMEA114764214
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2