Name：NTCC? NA17726 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17726
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 48 YR
Gender性別: Female
Description描述: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
Remarks: Clinically affected; progressive bilateral weakness of arms and legs; wheelchair-dependent; weak facial muscles; scapular winging; elevated serum CPK; no chromosome 4 contraction; normal methylation levels; D4Z4 repeats for this donor subject are as follows: at 4q35: 28/59 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and at 10q26: 5/22 copies; this patient presented with FSHD symptoms, but does not have typical D4Z4 repeats (an occurrence in about 5% of cases); for additional genetic and epigenetic characterization, D4Z4 allele sizes, subtelomeric polymorphisms and methylation were tested using pulsed-field gel electrophoresis and Southern blotting with non-radioactive digoxigenin-labeled probes (Leidenroth et al. Eur J Hum Genet, 2012,PMID 22378277); GM17726 has three A-type telomeres and four D4Z4 alleles - the two larger alleles are from chromosome 4 while two smaller alleles are from chromosome 10; the original diagnosis was indicated as non-4q FSHD; Leidenroth et al. (2012) used whole exome sequencing to identify two known pathogenic mutations in CAPN3: a heterozygous G>A transition resulting in a substitution (Arg490Gln) and a 1 bp deletion of adenine in exon 4 causing a frameshift (Thr184Argfs*36); RT-PCR and Sanger sequencing confirmed that the two mutations are on different chromosomes; this compound heterozygous mutation in CAPN3 indicates a diagnosis of LGMD2A and not FSHD.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CAPN3
Disease疾病類型:
Mutations突變: ARG490GLN THR184ARGfs*36
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
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References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
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