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UNEWi026-A

Donor information

Gender:Male
Age:60-64

Disease status

Disease: type 2 diabetes mellitus
Sporadic typical T2D
Disease variant

Disease: Age-Related Macular Degeneration
Donor is at high risk of developing age-related macular degeneration but has not been diagnosed with AMD at time of biopsy.
Affected: No
Carrier: Yes
Disease variant
Gene: CFH
Chromosome location: 1q31.3
Nucleotide sequence HGVS: NM_000186.3:c.1204C>T
Protein sequence HGVS: NP_000177.2:p.His402Tyr NC_000001.11:g.19669010
Zygosity: Homozygous
ClinVar ID: SCV000038294.5
dbSNP ID: rs1061170

General information

Depositor:University of Newcastle
Cell line name:UNEWi026-A
Cell line alternative names:SF116 clone 1
Biosamples ID:SAMEA4567589
hPSCreg name:UNEWi026-A
Derivation country:United Kingdom

Related lines

From the same donor: STBCi110-A, UNEWi026-B, UNEWi026-C
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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