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UKKi025-B

Donor information

Gender:Female
Age:40-44
Ethnicity:Caucasian / european
Donor karyotype:No larger chromosomal aberrations observed

Disease status

Disease: Hypertrophic cardiomyopathy
MYH7, Exon 19, heterozygous mutation, c.2156G>A, p.Arg719Gln
Affected: Yes
Carrier: Yes
Disease variant
Gene: MYH7
Chromosome location: 14q11.2
Nucleotide sequence HGSV: NM_000257.4:c.2156G>A
Protein sequence HGSV: NP_000248.2:p.Arg719Gln
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Disease associated phenotypes:auricular fibrillation, atrioventricular node ablation, atrial tachycardia, cardinal decompensation
Family history:The mother is also affected
Clinical information:Mutation: MYH7(Exon19); c.2156G>A; p.Arg719Gly

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi025-B
Cell line alternative names:NP0135-2
Biosamples ID:SAMEA17638168
hPSCreg name:UKKi025-B
Derivation country:Germany

Related lines

From the same donor: UKKi025-A, UKKi025-C
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
Cell Line Information Pack
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