SAMN26096465
External Id
Peking University People's Hospital
INSDC center name
2025-03-31T00:50:16.353Z
INSDC first public
2025-03-31T00:50:16.353Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
56
age
Prof. Hong Chen
biomaterial_provider
A 56-year-old female was admitted for asymptomatic hyperkalemia (6.79-8.55 mmol/L). She showed no overt symptoms or signs of hyperkalemia. A comprehensive work-up of hyperkalemia retrieved no meaningful findings. Patient and healthy volunteer blood samples underwent incubation tests in different temperatures and revealed a temperature-dependent potassium leak from red blood cells. Combining all test results, a diagnosis of hyperkalemia caused by RBC membrane defects was suspected. Whole-genome sequencing confirmed a c.1123C>T (p. R375W) mutation in the ABCB6 gene and confirmed the FP diagnosis.
description
A 56-year-old female was admitted for asymptomatic hyperkalemia (6.79-8.55 mmol/L). She showed no overt symptoms or signs of hyperkalemia. A comprehensive work-up of hyperkalemia retrieved no meaningful findings. Patient and healthy volunteer blood samples underwent incubation tests in different temperatures and revealed a temperature-dependent potassium leak from red blood cells. Combining all test results, a diagnosis of hyperkalemia caused by RBC membrane defects was suspected. Whole-genome sequencing confirmed a c.1123C>T (p. R375W) mutation in the ABCB6 gene and confirmed the FP diagnosis.
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
female
sex
whole blood
tissue
Human sample from Homo sapiens
title