GM03814
Fibroblast from Skin, Arm
Description:
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Country of Origin
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USA
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.69 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 1 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
| Remarks |
Clinically unaffected mother of two affected children: (1st child is GM03813/GM23240/GM24468 and 2nd child is not in repository); array digital PCR, NGS, and MLPA analysis revealed that donor subject has 1 copy of the SMN1 gene and 5 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is heterozygous for deletion of exons 7 and 8 in the SMN1 gene; unstable cytogenetically; see GM24474 (iPSC-episomal) and ND41114/ND42240/ND42240 (iPSC clones-episomal); previously classified as SMA I, but data such as onset features and SMN2 dosage in the proband supported re-classification to SMA II. |
| James R, Faller KME, Groen EJN, Wirth B, Gillingwater TH, Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy Communications medicine4:86 2023 |
| PubMed ID: 38750213 |
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| Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER, Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy Scientific reports13:10374 2022 |
| PubMed ID: 37365234 |
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| Duszczyk MM, Wischnewski H, Kazeeva T, Arora R, Loughlin FE, von Schroetter C, Pradère U, Hall J, Ciaudo C, Allain FH, The solution structure of Dead End bound to AU-rich RNA reveals an unusual mode of tandem RRM-RNA recognition required for mRNA regulation Nature communications13:5892 2021 |
| PubMed ID: 36202814 |
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| Filer DL, Kuo F, Brandt AT, Tilley CR, Mieczkowski PA, Berg JS, Robasky K, Li Y, Bizon C, Tilson JL, Powell BC, Bost DM, Jeffries CD, Wilhelmsen KC, Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing BMC bioinformatics22:374 2021 |
| PubMed ID: 34284719 |
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| Sansa A, de la Fuente S, Comella JX, Garcera A, Soler RM, Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons Neurobiology of disease155:105366 2021 |
| PubMed ID: 33845129 |
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| Sansa A, Hidalgo I, Miralles MP, de la Fuente S, Perez-Garcia MJ, Munell F, Soler RM, Garcera A, Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons Acta neuropathologica communications9:122 2021 |
| PubMed ID: 34217376 |
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| Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P, Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument Scientific reports10:19892 2020 |
| PubMed ID: 33199817 |
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| Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L, Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project The Journal of molecular diagnostics : JMD23:103-110 2020 |
| PubMed ID: 33197628 |
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| Barrault L, Gide J, Qing T, Lesueur L, Tost J, Denis JA, Cailleret M, Aubry L, Peschanski M, Martinat C, Baghdoyan S, Expression of miRNAs from the Imprinted Cells8:103-110 2019 |
| PubMed ID: 31779280 |
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| Kaifer KA, Villalón E, O'Brien BS, Sison SL, Smith CE, Simon ME, Marquez J, O'Day S, Hopkins AE, Neff R, Rindt H, Ebert AD, Lorson CL, AAV9-Mediated Delivery of miR-23a Reduces Disease Severity in Smn2B-/SMA Model Mice Human molecular genetics8:103-110 2019 |
| PubMed ID: 31211843 |
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| Garcia-Lopez A1, Tessaro F2, Jonker HRA3, Wacker A3, Richter C3, Comte A4, Berntenis N5, Schmucki R5, Hatje K5, Petermann O2, Chiriano G2, Perozzo R2, Sciarra D2, Konieczny P6,7, Faustino I8, Fournet G4, Orozco M8, Artero R6,7, Metzger F5, Ebeling M5, Goekjian P4, Joseph B4, Schwalbe H3, Scapozza L, Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes Nature Communications
9:2032 2018 |
| PubMed ID: 29795225 |
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| Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER, Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR Neuromuscular disorders : NMD27:439-446 2016 |
| PubMed ID: 28284873 |
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| Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015 |
| PubMed ID: 26247043 |
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| Mack SG, Cook DJ, Dhurjati P, Butchbach ME, Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy PloS one9:e115473 2014 |
| PubMed ID: 25514431 |
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| Liu ML, Zang T, Zou Y, Chang JC, Gibson JR, Huber KM, Zhang CL, Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons Nature communications4:2183 2013 |
| PubMed ID: 23873306 |
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| Ebert, A.D. and Svendsen, C.N., Stem Cell Model of Spinal Muscular Atrophy Arch Neurol67(6):665-669 2010 |
| PubMed ID: 20558385 |
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| Ebert, A.D.; Yu, J.; Ferrill, F.R.; Mattis, V.B.; Lorson, C.L.; Thomson, J.A.; and Svendsen, C.N., Induced pluripotent stem cells from a spinal muscular atrophy patient Nature457(7227):277-80 2009 |
| PubMed ID: 19098894 |
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| Thi Man N, Humphrey E, Lam LT, Fuller HR, Lynch TA, Sewry CA, Goodwin PR, Mackenzie AE, Morris GE, A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy Neurology457(7227):277-80 2008 |
| PubMed ID: 18633133 |
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| Thurmond J1, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J., Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem51(3):449-69 2008 |
| PubMed ID: 18205293 |
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| Novoyatleva T1, Heinrich B, Tang Y, Benderska N, Butchbach ME, Lorson CL, Lorson MA, Ben-Dov C, Fehlbaum P, Bracco L, Burghes AH, Bollen M, Stamm S., Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet17(1):52-70 2007 |
| PubMed ID: 17913700 |
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| Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G, The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Molecular and cellular biology25:5543-51 2005 |
| PubMed ID: 15964810 |
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| Kelley BP, Lunn MR, Root DE, Flaherty SP, Martino AM, Stockwell BR, A flexible data analysis tool for chemical genetic screens. Chem Biol11(11):1495-503 2004 |
| PubMed ID: 15556000 |
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| DiDonato CJ, Parks RJ, Kothary R, Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther14(2):179-88 2003 |
| PubMed ID: 12614569 |
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| Gangwani L, Mikrut M, Theroux S, Sharma M, Davis RJ, Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Nat Cell Biol3(4):376-83 2001 |
| PubMed ID: 11283611 |
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| Scudiero DA, Polinsky RJ, Brumback RA, Tarone RE, Nee LE, Robbins JH, Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical. Mutat Res159:125-31 1986 |
| PubMed ID: 3941662 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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