GM17898 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | FSHD GENE 1; FRG1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17898 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | FSHD GENE 1; FRG1 B-Lymphocyte Cell Line
面肩肱型肌营养不良症 1； FSHD1 | FSHD基因1； FRG1细胞株
Description描述：Clinically affected; history of progressive upper and lower limb weakness; bifacial weakness; scapular winging; elevated serum CPK; muscle biopsy showed myopathic changes; Clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35. There is a homologous D4Z4 locus on chromosome 10qter. Normally there are two 4q-type arrays and two 10q-type arrays. In these cases, the 4q-arrays are implied as actually on 4q. But there can be four 4q-type arrays and no 10q-type, or three 4q-type and one 10q-type arrays, or no 4q-type, or one 10q-type array and three 4q-type arrays. EcoRI/HindIII double digestion fragment analysis revealed four 4q-type D4Z4 repeats in this donor subject. The repeat copy numbers are 4, 9, 10 and 36.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17898
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: White
Age年龄:60 YR
Gender性别:Male
Cell Type细胞类型: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | FSHD GENE 1; FRG1
Affected State:Yes
Product:LCL
Gene:FRG1
Mutations突变:D4Z4 REPEATS ON CHROMOSOME 4q35 (<10)
Ethnicity:
Family:2224
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:

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