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PFIZi016-A

Donor information

Gender:Female
Age:15-19

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
Cell Line Information Pack
A Cell Line Information Pack (CLIP) is created to communicate cell line specific information relating to restrictions on use to a user accessing cell lines from EBiSC. A CLIP contains information about a cell line including any specific third party obligations (TPOs) relating to, for example, intellectual property (IP) or the donor consent which affect the use of the cell line.