NTCC® NA26075 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA26075
- 价 格：¥59850
- 货 号：NTCC®-Coriell NA26075
- 产 地：北京
- BioVector NTCC典型培养物保藏中心
- 联系人：Dr.Xu, Biovector NTCC Inc.
电话：400-800-2947 工作QQ:1843439339 (微信同号)
邮件：Biovector@163.com
手机：18901268599
地址：北京
- 已注册
Name：NTCC® NA26075 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26075
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 YR
Gender性别: Male
Description描述: MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SMAD4
Disease疾病类型:
Mutations突变: c.1182_1197delAGGTGATGTTTGGGTC
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26075
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 YR
Gender性别: Male
Description描述: MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SMAD4
Disease疾病类型:
Mutations突变: c.1182_1197delAGGTGATGTTTGGGTC
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
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