Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

被引：1

作者：

Driver, Karrison ^{[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
]}

Ravenscroft, Gianina ^{[1
,2
]}

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, QEII Med Ctr, Ctr Med Res, 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, APHP, Ctr Reference Pathol Neuromusculaire Nord Est Ile, Creteil, France

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

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

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

来源：

STEM CELL RESEARCH | 2023年 / 73卷

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.scr.2023.103258

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 33-year-old male with CCD, caused by a previously unreported dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene. Both lines demonstrated typical morphology, pluripotency, tri-lineage differentiation, and had a normal karyotype. As the first published iPSC model of CCD caused by an RYR1 variant these lines are a potential resource for further investigation of RYR1-related myopathies in a human context.

引用

页数：6

共 6 条

[1] 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
Clayton, Joshua S.
Scriba, Carolin K.
Romero, Norma B.
Malfatti, Edoardo
Saker, Safaa
Larmonier, Thierry
Nowak, Kristen J.
Ravenscroft, Gianina
Laing, Nigel G.
Taylor, Rhonda L.
STEM CELL RESEARCH, 2021, 55
[2] Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
Clayton, Joshua S.
Scriba, Carolin K.
Romero, Norma B.
Malfatti, Edoardo
Saker, Safaa
Larmonier, Thierry
Nowak, Kristen J.
Ravenscroft, Gianina
Laing, Nigel G.
Taylor, Rhonda L.
STEM CELL RESEARCH, 2021, 53
[3] Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p Ala172Glu) variant in the ACTA1 gene .
Clayton, Joshua S.
Suleski, Isabella
Vo, Christina
Smith, Robert
Scriba, Carolin K.
Saker, Safaa
Larmonier, Thierry
Malfatti, Edoardo
Romero, Norma B.
Houweling, Peter J.
Nowak, Kristen J.
Ravenscroft, Gianina
Laing, Nigel G.
Taylor, Rhonda L.
STEM CELL RESEARCH, 2022, 63
[4] 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
Suleski, Isabella S.
Smith, Robert
Vo, Christina
Scriba, Carolin K.
Saker, Safaa
Larmonier, Thierry
Malfatti, Edoardo
Romero, Norma B.
Houweling, Peter J.
Nowak, Kristen J.
Laing, Nigel G.
Taylor, Rhonda L.
Clayton, Joshua S.
STEM CELL RESEARCH, 2022, 63
[5] p Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson?s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p. T610A) in the RHOT1 gene encoding Miro1
Chemla, Axel
Arena, Giuseppe
Saraiva, Claudia
Berenguer-Escuder, Clara
Grossmann, Dajana
Grunewald, Anne
Klein, Christine
Seibler, Philip
Schwamborn, Jens C.
Kruger, Rejko
STEM CELL RESEARCH, 2023, 69
[6] Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p. R450C) in the RHOT1 gene encoding Miro1
Chemla, Axel
Arena, Giuseppe
Onal, Gizem
Walter, Jonas
Berenguer-Escuder, Clara
Grossmann, Dajana
Grunewald, Anne
Schwamborn, Jens C.
Kruger, Rejko
STEM CELL RESEARCH, 2023, 71

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