Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Family Member 3
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY.arr(1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks Marked muscle atrophy and weakness;donor subject has 2 copies of the SMN2 gene; PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene;similarly affected brother.
PDL at Freeze 6.99
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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
 
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
Remark Marked muscle atrophy and weakness;donor subject has 2 copies of the SMN2 gene; PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene;similarly affected brother.
Anderton RS, Price LL, Turner BJ, Meloni BP, Mitrpant C, Mastaglia FL, Goh C, Wilton SD, Boulos S, Co-regulation of SMN and Bcl-xL Expression: Implications for Neuroprotection in Spinal Muscular Atrophy Neuroscience: 2012
PubMed ID: 22732506
 
Liu J, Hu J, Corey DR, Expanding the action of duplex RNAs into the nucleus: redirecting alternative splicing Nucleic acids research40:1240-50 2011
PubMed ID: 21948593
 
Anderton RS, Meloni BP, Mastaglia FL, Greene WK, Boulos S, Survival of motor neuron protein over-expression prevents calpain-mediated cleavage and activation of procaspase-3 in differentiated human SH-SY5Y cells Neuroscience181:226-33 2010
PubMed ID: 21333717
 
Ebert, A.D. and Svendsen, C.N., Stem Cell Model of Spinal Muscular Atrophy Arch Neurol67(6):665-669 2010
PubMed ID: 20558385
 
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
 
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
 
Simard LR, Bélanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ, Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA Neurology68:451-6 2007
PubMed ID: 17283322
 
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ, Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy The Journal of clinical investigation117:659-71 2006
PubMed ID: 17318264
 
Singh NK, Singh NN, Androphy EJ, Singh RN, Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron Molecular and cellular biology26:1333-46 2006
PubMed ID: 16449646
 
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
 
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
 
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
 
Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR, Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol11(11):1489-93 2004
PubMed ID: 15555999
 
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
 
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
 
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
 
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
No data is available
Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated