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Manufactured / Disease models

ISOGENIC CELL LINES

Disease models

Isogenic human cell lines carrying a single pathogenic variant, edited at the endogenous locus, so the only difference from the parent line is the one that causes the disease.

Isogenic
Matched to the parent
Endogenous
Edited at the native locus
Verified
Sequence, STR, mycoplasma

Coming soon

2 new disease model cell lines

Isogenic human cell lines carrying a single pathogenic variant, edited at the endogenous locus. No selection cassette, no silent passenger mutations, no residual recombination scars. Each line differs from its parent at the disease-causing base and nowhere else.

CFTR c.1624G>T (p.Gly542Ter, G542X)

in 16HBE14o- (Immortalised Human Bronchial Epithelium)

Class I nonsense variant in a bronchial epithelial background with native CFTR expression. For readthrough compounds, nonsense-mediated decay studies and gene correction work.

ASS1 c.1168G>A (p.Gly390Arg)

in Huh7 (Human Hepatoma)

Citrullinaemia type I, hepatocyte-derived background. Supplied alongside an ASS1 knockout line from the same editing campaign if a complete loss of function comparator is useful.

Quality

What ships with every line

Sanger sequencingAcross the edited allele
ZygosityConfirmed
STR profileIncluded
MycoplasmaCleared

Custom

Custom disease models, built to order

Point mutations, deletions, insertions and knockouts in the background your assay already runs in. Send us the gene, the variant in HGVS notation and the parental line, and we will come back on feasibility and timing.

1

The gene

The gene you want to model.

2

The variant

In HGVS notation, for example c.1624G>T.

3

The parental line

The background your assay already runs in.

4

Feasibility and timing

We come back to you on both.

Tell us the gene and the variant

Gene, variant in HGVS notation and parental line. We will come back on feasibility and timing.

Discuss a model