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Donor information


Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: SCN1A
Chromosome location: 2q24.3
Nucleotide sequence HGSV: NM_001165963.2:c.1649_1650del
Zygosity: Heterozygous
Description: 1bp Deletion of C; Nucleotide position: 1650; Codon: 500; Amino Acid Change: Frame Shift; Variant Type: Predicted disease-associated mutation (heterozygous)

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi015-A
Cell line alternative names:OD003-s5
Biosamples ID:SAMEA4454948
hPSCreg name:PFIZi015-A
Timepoint: 48hr post thaw
Magnification: x10
Timepoint: Confluency
Magnification: x4
Timepoint: Confluency
Magnification: x10
Timepoint: 48hr post thaw
Magnification: x4
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.