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PFIZi018-A

Donor information

Gender:Female
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.3733C>T
Zygosity: Heterozygous
Description: Transition C > T, Nucleotide position 3733, codon 1245, Amino Acid Change Arginine > OPA, Variant Type: heterozygous
Disease associated phenotypes:Tonic-clonic seizures , Memory: Recent and remote memory are reduced, Attention/Concentration: Impaired, Judgement/Fund of Knowledge: Reduced, Normal station and gait

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi018-A
Cell line alternative names:BC143c8, RCi207
Biosamples ID:SAMEA4458850
hPSCreg name:PFIZi018-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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