GM20193 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20193 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2 B-Lymphocyte Cell Line
常染色体隐性耳聋 49； DFNB49 | MARVEL 含结构域蛋白 2；漫威2细胞株
Description描述：Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; two affected siblings; father is GM20192; donor subject is homozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20193
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: East Indian
Age年龄:22 YR
Gender性别:Male
Cell Type细胞类型: DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
Affected State:Yes
Product:LCL
Gene:MARVELD2
Mutations突变:IVS4+2T>C
Ethnicity:PAKISTANI
Family:2459
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
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