Cellosaurus cell line DeltaST3GAL3 clone 1 (CVCL

Entry history
Cell line name	DeltaST3GAL3 clone 1
Synonyms	DeltaSt3Gal-III iPSC
Accession	CVCL_D6RR
Resource Identification Initiative	To cite this cell line use: DeltaST3GAL3 clone 1 (RRID:CVCL_D6RR)
Comments	From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany. Population: Palestinian. Omics: Transcriptome analysis by RNAseq. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10866; ST3GAL3; Simple; p.Ala320Pro (c.958G>C); ClinVar=VCV000039592; Zygosity=Homozygous (PubMed=30089820).
Disease	West syndrome (NCIt: C84788) Infantile spasms syndrome (ORDO: Orphanet_3451)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Children
Category	Induced pluripotent stem cell
Publications	PubMed=30089820; DOI=10.1038/s41431-018-0220-5; PMCID=PMC6244410 van Diepen L., Buettner F.F.R., Hoffmann D., Thiesler C.T., von Bohlen und Halbach O., von Bohlen und Halbach V., Jensen L.R., Steinemann D., Edvardson S., Elpeleg O., Schambach A., Gerardy-Schahn R., Kuss A.W. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. Eur. J. Hum. Genet. 26:1773-1783(2018)
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2