GM26075 MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26075 MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4 B-Lymphocyte Cell Line
迈尔综合症； MYHRS |母亲反对断肢瘫痪，果蝇，同源物，4； SMAD4细胞株
Description描述：Clinically affected; onset of symptoms at 6 weeks of age; diagnosed at 2 years of age by geneticist; dysmorphic features include: tall narrow forehead, almond-shaped eyes, anteverted nares, low-set ears, cupid-bow mouth, and high-arched palate; hypotonia; dysphagia; conductive hearing loss; gross motor and fine motor delay; L1 and L2 vertebral abnormality; Affymetrix CytoScan -normal; both whole exome sequencing and Sanger sequencing revealed donor subject to be heterozygous for the following mutation in SMAD4: c.1182_1197delAGGTGATGTTTGGGTC; treatment and management: physical, occupational, and speech language therapies; unaffected mother is GM26076.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26075
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:2 YR
Gender性别:Male
Cell Type细胞类型: MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
Affected State:Yes
Product:LCL
Gene:SMAD4
Mutations突变:c.1182_1197delAGGTGATGTTTGGGTC
Ethnicity:Old Order Amish
Family:3324
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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