GM16343 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16343 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 B-Lymphocyte Cell Line
面肩肱型肌营养不良症 1； FSHD1细胞株
Description描述：Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 6 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by Lemmers R.J.F. et al (Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and 4qSTR analysis as described by Lemmers R.J.F. et al (Am J Hum Genet., 2010 and Science, 2010), Snider L. et al (PLoS Genetics, 2010), and Barat-Houari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4C166H, 10A166/10A166; characterization of this line described by T.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1946 (Family 32 in the Jones publication)._x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM16343
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:25 YR
Gender性别:Male
Cell Type细胞类型: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:1946
Relationship:son
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:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net