e.g., SAMC013103; SAMN23469633; human
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Accession SAMC3557369
Sample name AS1-Nephrology of Tianjin Hospital
Title A Novel Compound Heterozygous Mutation in COL4A3 Gene
Sample type Human sample
Organism Homo sapiens
Description This sample is from a 27-year-old woman who was diagnosed with Autosomal Recessive Alport Syndrome. And she is compound heterozygote for two mutations in the COL4A3 gene, including c.2990G>A inherited from her father and c.4981C>T inherited from her mother. The coexisting of these two mutations in patients with Alport syndrome is not reported so far.
Attributes
Isolate A 27-year-old woman with kidney failure
Age
Biomaterial provider Nephrology of Tianjin Hospital
Sex female
Tissue blood
Disease
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Release date 2024-04-24
BioProject Accession PRJCA023135
Submitter Sha  Chen  (chenshasunshine@163.com)
Organization Tianjin Hospital
Submission date 2024-04-24

Sample Data

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