Description:
SPINAL MUSCULAR ATROPHY I; SMA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| 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. |
| 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 |
| |
| Azad AK, Huang CK, Jin H, Zou H, Yanakakis L, Du J, Fiddler M, Naeem R, Goldstein Y, Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method Laboratory medicine10:19892 2019 |
| PubMed ID: 31875889 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
|