NTCC® NA26124 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA26124

Name：NTCC® NA26124 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26124
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: 12 YR
Gender性别: Female
Description描述: MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1
Remarks: Clinically affected; diagnosed with myopathy, congenital unknown type at 10 years old; stayed in NICU for 11 days for feeding issues; hypotonia; subclinical hypothyroidism; developmental delay; rolled at 8 months, sat at 9 months, walked independently at 14 months, first word at 15 months; failure to thrive; poor energy levels; very low muscle mass; cramping in hands and feet; pain in front of legs at night; episodes of dizziness and visual disturbances where images appear maginified brought on by activity and heat; non-diagnostic muscle biopsy showed no evidence of mitochondrial dysfunction; whole exome sequencing found 2 VOUS, one heterozygous variant in FLNC gene (c.2602A>G) which resulted in p.SER868GLY and one heterozygous de-novo variant in RYR1 (c.6584C>T) resulting in p.PRO2195LEU; variant finding in RYR1 could be diagnostic, but pathogenicity is unknown as of date of sampling; secondary pathogenic heterozygous variant in TYMP gene (c.929-6_929-3delCCGC) resulting in disruption of splicing recognition site, individual may be a carrier for mitochondrial DNA depletion syndrome 1 (MNGIE type) due to WES results and phenotype; physical therapy; Pediasure and Vitale; closed nasal reduction; tonsillectomy and adenoidectomy; mother (GM26125) and father (GM26126) also in repository.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: FLNC RYR1 TYMP
Disease疾病类型:
Mutations突变: c.2602A>G c.6584C>T c.929-6_929-3delCCGC
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