Below are the list of genetic modifications induced by cell lines in the registry.
Homozygous insertion of sequences encoding the tdTomato fluorescent protein and a P2A peptide at the ACTA1 locus.
Genotype: tm(ACTA1t/t:ACTA1-P2A-tdTomato)
Produced by: Gene Knock-in
Correction of heterozygous ACTA1 c.443G>A (p.Gly148Asp) variant present in the parental line (MCRIi024-A). A synonymous change was also introduced (ACTA1 p.Ser147Ser). Targeted corrected clones were identified by allele-specific PCR and changes were confirmed by Sanger Sequencing.
Genotype: Homozygous: unspecified_reference_ACTA1:c.443=(p.Gly148=)
Produced by: Isogenic modification
Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
Genotype:
Produced by: Variant
Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
Genotype:
Produced by: Variant
Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
Genotype:
Produced by: Variant
Heterozygous COL2A1 c.3508GGT>TCA (p.Gly1170Ser) variant was introduced to COL2A1 exon 50 to generate a model of Legg-Calve-Perthes Disease.
Genotype: Heterozygous: unspecified_reference_COL2A1:c.3508GGT>TCA(p.Gly1170Ser)
Produced by: Isogenic modification
Introduction of heterozygous COL2A1 c.3397GGC>TGC (p.Gly1113Cys) variant was reported.
Genotype: Heterozygous: unspecified_reference_COL2A1:c.3337G>T(p.Gly1113Cys)
Produced by: Isogenic modification
Heterozygous COL2A1 c.2155C>T (p.Arg719Cys) variant was introduced to COL2A1 exon 33 to generate a model of Osteoarthritis with Mild Chondrodysplasia. A synonymous change was also introduced.
Genotype: Heterozygous: unspecified_reference_COL2A1:c.2155C>T(p.Arg719Cys)
Produced by: Isogenic modification
Heterozygous COL2A1 c.2965C>T (p.Arg989Cys) variant was introduced to COL2A1 exon 43 to generate a model of Spondyloepiphyseal Dysplasia. Synonymous changes were also introduced.
Genotype: Heterozygous: unspecified_reference_COL2A1:c.2965C>T(p.Arg989Cys)
Produced by: Isogenic modification
This line is engineered to include a genetic reporter of CX3CR1 expression which results in expression of tdTomato and nanoluciferase in series with CX3CR1 expression. The construct also includes a neomycin resistance cassette flanked by FRT sites. One allele of the CX3CR1 gene contains the following construct targeted to the stop codon: IRES-tdTomato-T2A-Nanoluc-pA-FRT-neo-FRT.
Genotype:
Produced by: Gene Knock-in