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 Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Expired at age 6 months; marked diffuse hypotonia; respiratory distress; muscle atrophy; diagnosis confirmed by muscle biopsy; normal biotinidase level; donor subject is homozygous for a deletion of exons 7 and 8 in the SMN1 gene and has 2 copies of the SMN2 gene; negative family history.
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 6 months; marked diffuse hypotonia; respiratory distress; muscle atrophy; diagnosis confirmed by muscle biopsy; normal biotinidase level; donor subject is homozygous for a deletion of exons 7 and 8 in the SMN1 gene and has 2 copies of the SMN2 gene; negative family history.
Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH, SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials Neurology66:1067-73 2006
PubMed ID: 16481599
 
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
 
Kolb SJ, Gubitz AK, Olszewski RF, Ottinger E, Sumner CJ, Fischbeck KH, Dreyfuss G, A novel cell immunoassay to measure survival of motor neurons protein in blood cells BMC neurology [electronic resource]6:6 2005
PubMed ID: 16451734
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium