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Donor information


Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: SCN1A
Chromosome location: 2q24.3
Protein sequence HGSV: NP_001189364.1:p.Val1352CystfrX5
Description: Frameshift mutation p.Val1352CystfrX5
Disease associated phenotypes:GTC seizure, Developmental delay, No truncal ataxia in upright seated position

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi016-A
Cell line alternative names:OD005-s9
Biosamples ID:SAMEA4454950
hPSCreg name:PFIZi016-A
Timepoint: 48hr post thaw
Magnification: x4
Timepoint: 48hr post thaw
Magnification: x10
Timepoint: Confluency
Magnification: x4
Timepoint: Confluency
Magnification: x10
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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