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
Correction of heterozygous NM_001232.4(CASQ2):c.539A>G((NP_001223.2):p.(Lys180Arg)) variant present in the parental line (CIAUi003-A). Clones were characterised to confirm the absence of plasmid integration, the donor variant and off-target activity of Cas9.
Genotype: NM_001232.4:c.539A=((NP_001223.2):p.(Lys180=))
Produced by: Isogenic modification
Correction of heterozygous NM_000086.2 (CLN3):c.175G>A(p.Ala59Thr) present in the parental line (LEIi004-A). Note that the 1.02kb deletion present in the parental line is retained (Heterozygous: unspecified_reference_CLN3: 1.02kb deletion including of exons 7 and 8). Correction was confirmed by PCR and Sanger sequencing, and screening for off-target modifications ensured no additional variations were introduced.
Genotype: Heterozygous: NM_000086.2:c.175G=(p.Ala59=); Heterozygous: unspecified_reference_CLN3: 1.02kb deletion including of exons 7 and 8
Produced by: Isogenic modification
Introduction of heterozygous COL1A1:c.3969_3970insT variant in exon 49 leading to a frameshift and insertion of a premature stop codon. Synonymous changes were also introduced.
Genotype: Heterozygous: unspecified_reference_COL1A1:c.3969_3970insT
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
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