Key result
Human iPSC cell line FAMRCi009-A was successfully generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying the FLNC p.Val2264Met genetic variant.
The generation of this patient-specific iPSC line provides a valuable in vitro model for studying filaminopathies and associated cardiac conduction disorders and cardiomyopathies.
Provides patient-specific iPSC model for FLNC cardiomyopathy; leaves open functional validation and clinical translation.
Human iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative Sendai viruses. Generated iPSC lines showed normal karyotype, expressed pluripotency markers and exhibited trilineage differentiation potential in vitro. The reported iPSC lines could be used for a deeper study of filaminopathies.
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Rodina et al. (2021) studied Restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic variant (n=1). Generation of iPSC line (FAMRCi009-A) using non-integrative Sendai viruses was evaluated on iPSC line characteristics (karyotype, pluripotency markers, trilineage differentiation potential). Human iPSC cell line FAMRCi009-A was successfully generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying the FLNC p.Val2264Met genetic variant.
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