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UKKi031-A

Donor information

Gender:Female
Age:55-59

Disease status

Disease: Hypertrophic cardiomyopathy
Tnnt2; Exon 9; c.281G>T; Arg94Leu
Affected: Yes
Carrier: Yes
Disease variant
Gene: TNNT2
Chromosome location: 1q32.1
Nucleotide sequence HGSV: NM_001001430.2:c.281G>T
Protein sequence HGSV: NP_001001430.1:p.Arg94Leu
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Family history:No
Medical history:Yes
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi031-A
Cell line alternative names:NP0138-8B
Biosamples ID:SAMEA104494413
hPSCreg name:UKKi031-A
Derivation country:Germany

Related lines

From the same donor: UKKi031-B, UKKi031-C
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
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.