Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

2 results

Finished

Improving outcomes for individuals and families affected by genetic disease
Laing, N. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/12/21
Project: Research
Gene discovery and pathobiology in muscle diseases
Ravenscroft, G. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/07/22
Project: Research