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Donor information


Disease status

Disease: Dravet syndrome
Affected: Yes
Carrier: Yes
Disease variant
Gene: C12orf57
Chromosome location: 12p13.31
Nucleotide sequence HGSV: NM_138425.3:c.184C>T
ClinVar ID: SCV000490446.1
Description: p.Gln62Stop (CAG>TAG): c.184 C>T in exon 2 in the C12orf57 gene (NM _138425.3)

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:PFIZi028-A
Cell line alternative names:B212c7
Biosamples ID:SAMEA104491452
hPSCreg name:PFIZi028-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.