NTCC® NA25516 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA25516

Name：NTCC® NA25516 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25516
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: 34 YR
Gender性别: Male
Description描述: CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1
Remarks: Clinically affected; symptom onset before age 2; complications with delivery resulted in emergency C-section; at birth: hypotonic, external opthalmoplegia, bilateral cephalohematomas, pre-retinal hemorrhage in the left eye, feeding difficulties; at 6 months, noted absent tendon reflexes; motor functions achieved and maintained: holding head up, sitting, and walking without assistance; maximum motor function achieved: climbing stairs with handrail; on the RYR1 gene, donor is compound heterozygous for c.6721C>T(p.Arg2241*, pathogenic, paternally inherited), c.325C>T(p.Arg109Trp, likely pathogenic, maternally inherited), c.2122G>A(p.Asp708Asn, VUS, paternally inherited), and c.1453A>G(p.Met485Val, VUS, maternally inherited); family history: affected brother is GM23796 (lymph); unaffected family members: mother GM23798 (lymph), brother GM23799(lymph), and brother GM23797 (lymph); same subject lymphoblast is GM23800.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: RYR1
Disease疾病类型:
Mutations突变: ARG109TRP ARG2241*
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