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UKKi035-A

Donor information

Gender:Male
Age:65-69

Disease status

Disease: Hypertrophic cardiomyopathy
MYBPC3; Exon 27; c.2827C>T; p.Arg943*
Disease variant
Gene: MYBPC3
Chromosome location: 11p11.2
Nucleotide sequence HGVS: NM_000256.3:c.2827C>T
Protein sequence HGVS: NP_000247.2:p.Arg943*
Zygosity: Heterozygous

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi035-A
Cell line alternative names:NP0139-A, NP0139-3E
Biosamples ID:SAMEA104615859
hPSCreg name:UKKi035-A
Derivation country:Germany

Related lines

From the same donor: UKKi035-B, UKKi035-C
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
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