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Cellosaurus (CVCL_D3PA)

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Comments Population: Caucasian.
Donor information: At sampling donor was asymptomatic for cardiomyopathy.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9080; PLN; Simple; p.Arg14del (c.37_39AGA[1]) (c.40_42delAGA) (R14del); ClinVar=VCV000044580; Zygosity=Heterozygous (PubMed=37748331).
Disease Dilated cardiomyopathy-1P (NCIt: C173625)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3