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PFIZi021-A

Donor information

Gender:Male
Age:10-14

Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: SCN1A
Chromosome location: 2q24.3
Nucleotide sequence HGSV: NM_001165963.1:c.5162C>G
ClinVar ID: SCV000090965.1
Description: p.T1721K, c.5162 C>A De novo
Disease associated phenotypes:GTC seizure, Developemental delay, Normal station and wide based, shuffled gait

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi021-A
Cell line alternative names:OD001-s7
Biosamples ID:SAMEA4563388
hPSCreg name:PFIZi021-A
Timepoint: 24hr post thaw
Magnification: x4
Timepoint: 24hr post thaw
Magnification: x10
Timepoint: Confluency P1 post thaw
Magnification: x4
Timepoint: Confluency P1 post thaw
Magnification: x10
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
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.