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Donor information


Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: SCN1A
Nucleotide sequence HGSV: NM_006920.4:c.1112C>T
Zygosity: Heterozygous
ClinVar ID: SCV000242490.10
Description: Transition C>T; nucleotide position: 1112; codon: 371; Amino Acid Change - Ala to Val
Disease associated phenotypes:Generalized epilepsy, Developmental delays, Station and gait are slightly wide based

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi014-A
Cell line alternative names:OD002-s7
Biosamples ID:SAMEA4454946
hPSCreg name:PFIZi014-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.