NA22592
DNA from Fibroblast
Description:
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
6.05 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 1 |
Exon 7 deleted; SPINAL MUSCULAR ATROPHY |
| Identified Mutation |
EX7DEL |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 2 |
Exon 7 deleted; SPINAL MUSCULAR ATROPHY |
| Identified Mutation |
EX7DEL |
| Remarks |
Clinically affected; able to sit; donor subject is homozygous for deletion of exons 7 and 8 in the SMN1 gene and has 3 copies of the SMN2 gene. |
| Filer DL, Kuo F, Brandt AT, Tilley CR, Mieczkowski PA, Berg JS, Robasky K, Li Y, Bizon C, Tilson JL, Powell BC, Bost DM, Jeffries CD, Wilhelmsen KC, Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing BMC bioinformatics22:374 2021 |
| PubMed ID: 34284719 |
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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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| 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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