Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

被引：2

作者：

Suleski, Isabella S. ^{[1
,2
]}

Smith, Robert ^{[1
,2
]}

Vo, Christina ^{[1
,2
]}

Scriba, Carolin K. ^{[1
,2
,3
]}

Saker, Safaa ^{[4
]}

Larmonier, Thierry ^{[4
]}

Malfatti, Edoardo ^{[5
,6
]}

Romero, Norma B. ^{[7
,8
]}

Houweling, Peter J. ^{[9
,10
]}

Nowak, Kristen J. ^{[2
,11
,12
]}

Laing, Nigel G. ^{[1
,2
]}

Taylor, Rhonda L. ^{[1
,2
]}

Clayton, Joshua S. ^{[1
,2
]}

机构：

[1] QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA, Australia

[2] Univ Western Australia, Ctr Med Res, QEII Med Ctr, Nedlands, WA, Australia

[3] QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia

[4] Genethon, DNA & Cell bank, F-91000 Evry, France

[5] Henri Mondor Hosp, AP HP, Ctr Reference Pathol Neuromusculaire Nord Est Ile, Creteil, France

[6] Univ Paris Est, U955, INSERM, IMRB, F-94010 Creteil, France

[7] Sorbonne Univ, Myol Inst, Ctr Res Myol, Neuromuscular Morphol Unit,GH Pitie Salpetrier, Paris, France

[8] Assistance Publ Hop Paris, Ctr Reference Pathol Neuromusculaire Paris Est, GHU Pitie Salpetriere, Paris, France

[9] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[10] Univ Melbourne, Dept Pediat, Parkville, Vic, Australia

[11] Western Australian Dept Hlth, Publ & Aboriginal Hlth Div, Off Populat Hlth Genom, East Perth, East Perth, WA, Australia

[12] Univ Western Australia, Fac Hlth & Med Sci, QEII Med Ctr, Sch Biomed Sci, Nedlands, WA, Australia

来源：

STEM CELL RESEARCH | 2022年 / 63卷

基金：

英国医学研究理事会;

关键词：

MUTATIONS;

D O I：

10.1016/j.scr.2022.102830

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.

引用

页数：5

共 5 条

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