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Donor information


Disease status

Disease: Parkinson's disease
Affected: Yes
Carrier: Yes
Disease variant
Gene: GBA
Chromosome location: 1q22
Nucleotide sequence HGSV: NM_000157.3:c.1226A>G
Protein sequence HGSV: NP_000148.2:p.Asn409Ser
Zygosity: Heterozygous
dbSNP ID: rs76763715
Description: Heterozygous GBA N370S. N322S; ASN370SER

General information

Depositor:University of Oxford
Cell line name:UOXFi003-A
Cell line alternative names:MK088-1
Biosamples ID:SAMEA4454477
hPSCreg name:UOXFi003-A
Reference publications:

Related lines

From the same donor: UOXFi003-C
Lines from donor's relatives:

has brother ( disease status: Parkinson's disease, affected )
UOXFi002-A, UOXFi002-B, UOXFi002-C

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.