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
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Ethnicity POLISH/GERMAN/?
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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 2 copies of the SMN2 gene and is homozygous for deletion of exons 7 and 8 of the SMN1 gene; negative family history; eye lens fibroblast culture.
PDL at Freeze 7.47
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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 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 2 copies of the SMN2 gene and is homozygous for deletion of exons 7 and 8 of the SMN1 gene; negative family history; eye lens fibroblast culture.
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
 
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
 
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
 
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
 
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
No data is available
Cumulative PDL at Freeze 13.3
Passage Frozen 5
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
Serum 10% fetal bovine serum Not inactivated
Substrate None specified