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PFIZi023-A

Donor information

Gender:Female
Age:5-9

Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: GPR56
Chromosome location: 16q21
Nucleotide sequence HGSV: NM_005682.5:c.944_945dupTT
Zygosity: Heterozygous
ClinVar ID: SCV000247499.1
Description: c.944_945dupTT: p.V316LeufsX8 in exon 8 in the GPR56 gene
Disease variant
Gene: GPR56
Chromosome location: 16q21
Nucleotide sequence HGSV: NM_005682.5:c.1508T>C
Description: pLeu503Pro(CTC>CCC): c.1508 T>C in exon 12 in the GPR56 gene

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi023-A
Cell line alternative names:B217c8
Biosamples ID:SAMEA104236752
hPSCreg name:PFIZi023-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.