GM09677
Fibroblast from Lens, Eye
Description:
SPINAL MUSCULAR ATROPHY I; SMA1
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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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Eye
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Cell Type
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Fibroblast
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Tissue Type
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Lens
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Lens, Eye
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Race
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White
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Ethnicity
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POLISH/GERMAN/?
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Family Member
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1
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Relation to Proband
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proband
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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 |
4.55 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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 |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 2 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
| Remarks |
Expired at age 23 months; hypotonia; decreased muscle bulk; absent deep tendon reflexes; possible fasciculations; normal CPK; abnormal EMG and muscle biopsy consistent with the diagnosis; donor subject has 3 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is homozygous for deletion of exons 7 and 8 of the SMN1 gene; negative family history; eye lens fibroblast culture. |
| 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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| Baek J, Jeong H, Ham Y, Jo YH, Choi M, Kang M, Son B, Choi S, Ryu HW, Kim J, Shen H, Sydara K, Lee SW, Kim SY, Han SB, Oh SR, Cho S, Improvement of spinal muscular atrophy via correction of the SMN2 splicing defect by Brucea javanica (L) Merr extract and Bruceine D Phytomedicine : international journal of phytotherapy and phytopharmacology65:153089 2019 |
| PubMed ID: 31563042 |
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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 genetics65:153089 2019 |
| PubMed ID: 31211843 |
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| Pagliarini V, Guerra M, Di Rosa V, Compagnucci C, Sette C, Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells Journal of neurochemistry65:e14935 2019 |
| PubMed ID: 31811660 |
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| Son YS, Choi K, Lee H, Kwon O, Jung KB, Cho S, Baek J, Son B, Kang SM, Kang M, Yoon J, Shen H, Lee S, Oh JH, Lee HA, Lee MO, Cho HS, Jung CR, Kim J, Cho S, Son MY, A SMN2 splicing modifier rescues the disease phenotypes in an in vitro human spinal muscular atrophy model Stem cells and development65:e14935 2019 |
| PubMed ID: 30667343 |
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| Dayangac-Erden D1, Gur-Dedeoglu B2, Eskici FN1, Oztemur-Islakoglu Y2, Erdem-Ozdamar S3., Do Perineuronal Net Elements Contribute to Pathophysiology of Spinal Muscular Atrophy? In Vitro and Transcriptomics Insights OMICS A Journal of Integrative Biology65:e14935 2018 |
| PubMed ID: 30106667 |
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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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| Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ, The role of histone acetylation in SMN gene expression. Hum Mol Genet14(9):1171-82 2005 |
| PubMed ID: 15772088 |
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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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| 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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| Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, and Fischbeck KH.
, Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Ann Neurol54:647-654 2003 |
| PubMed ID: 14595654 |
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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 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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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