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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Mexican/Guatemalan
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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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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| Remarks |
Clinically unaffected mother of an affected child (GM23686); NGS, and MLPA analysis revealed that donor subject has 1 copy of the SMN1 gene and 2 copies of the SMN2 gene; unaffected father of affected child is GM23688. |
| Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L, Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project The Journal of molecular diagnostics : JMD23:103-110 2021 |
| PubMed ID: 33197628 |
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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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| 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 |
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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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