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Donor information


Disease status

Disease: Primary erythromelalgia
Affected: Yes
Disease variant
Gene: SCN9A
Chromosome location: 2q24.3
Zygosity: Heterozygous
Description: In the publication PMID:27099175, heterozygous point mutations were confirmed by Sanger sequencing: V400M: GTG(V) >>ATG(M)
Disease associated phenotypes:Familial Erythromelalgia

General information

Depositor:Pfizer Limited - Pfizer
Cell line name:RCi001-A
Cell line alternative names:Thp3C-6, RCi88
Biosamples ID:SAMEA3105842
hPSCreg name:RCi001-A

Related lines

From the same donor: RCi001-B
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.