ID   DeltaST3GAL3 clone 1
AC   CVCL_D6RR
SY   DeltaSt3Gal-III iPSC
RX   PubMed=30089820;
CC   From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany.
CC   Population: Palestinian.
CC   Sequence variation: Mutation; HGNC; HGNC:10866; ST3GAL3; Simple; p.Ala320Pro (c.958G>C); ClinVar=VCV000039592; Zygosity=Homozygous (PubMed=30089820).
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84788; West syndrome
DI   ORDO; Orphanet_3451; Infantile spasms syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=30089820; DOI=10.1038/s41431-018-0220-5; PMCID=PMC6244410;
RA   van Diepen L., Buettner F.F.R., Hoffmann D., Thiesler C.T.,
RA   von Bohlen und Halbach O., von Bohlen und Halbach V., Jensen L.R.,
RA   Steinemann D., Edvardson S., Elpeleg O., Schambach A.,
RA   Gerardy-Schahn R., Kuss A.W.;
RT   "A patient-specific induced pluripotent stem cell model for West
RT   syndrome caused by ST3GAL3 deficiency.";
RL   Eur. J. Hum. Genet. 26:1773-1783(2018).
//