GM17726 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17726 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A B-Lymphocyte Cell Line
肌营养不良症，肢带，2A 型； LGMD2A细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17726
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:48 YR
Gender性别:Female
Cell Type细胞类型: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
Affected State:Yes
Product:LCL
Gene:CAPN3
Mutations突变:ARG490GLN THR184ARGfs*36
Ethnicity:
Family:2217
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

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