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
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Name:NTCC® NA26075 LCL DNACategory分类:DNACat#货号:NTCC®-Coriell NA26075Size/Quantity数量: 1 VialBiosafety Level生物安全级别:1Shipping Info运输方式: RTStorage储存方式: 4CSpecies物种来源: Age年龄: 2 YRGender性别: MaleDescription描述: MYHRE SYNDROME; MYHRS | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4Remarks: 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:
LCLSource组织来源: LCLGene: SMAD4 Disease疾病类型: Mutations突变: c.1182_1197delAGGTGATGTTTGGGTCKaryotypes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
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