A human iPSC line from an asymptomatic woman carrying the GAA c.2051C>A (p.P684Q) variant was successfully generated, exhibiting typical stem cell features and differentiation capacity.
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Elsevier BV · Cell & Molecular Biology · ISSN 1873-5061, 1876-7753
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A human iPSC line from an asymptomatic woman carrying the GAA c.2051C>A (p.P684Q) variant was successfully generated, exhibiting typical stem cell features and differentiation capacity.
A human iPSC line from a male HCM patient with a heterozygous TPM1 c.644C>T mutation exhibits normal karyotype and differentiation potential.
A human induced pluripotent stem cell line from a nephronophthisis patient with NPHP4 variants exhibits pluripotency and differentiation capacity.
A human induced pluripotent stem cell line from an arrhythmogenic cardiomyopathy patient with DSG2 c.2358delA variant was successfully generated and characterized.
An induced pluripotent stem cell line from a long QT syndrome type 1 patient with the KCNQ1 c.343G > A p.(E115K) variant was successfully generated, maintaining normal cellular characteristics.
Two human iPSC lines from HypoPP patients carrying the CACNA1S c.1583G>A (p.Arg528His) mutation were generated and characterized for research use.
A new iPSC line from a 70-year-old patient with double primary lung and colon cancers maintains normal karyotype and differentiation capacity.
Two iPSC lines from ALS patients with mutations in SQSTM1 and TBK1 genes were successfully established and characterized.
CRISPR-Cas9 corrected the KRT5 p.E475G mutation in a human iPSC line from an epidermolysis bullosa simplex patient, restoring the wild-type sequence without off-target effects.
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