Name：NTCC? NA25151 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA25151
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 16 YR
Gender性別: Female
Description描述: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
Remarks: Clinically affected; diagnosed at age 5 years; symptom onset at birth; high arched palate; very weak suck; swallowing dysfunction; aspiration; failure to thrive; motor delay; skeletal muscle weakness; respiratory weakness; drooling; speech impairment; maximum motor function achieved: climb 4 stairs with handrail; electron microscopy result: biopsy of the left gluteus muscle showed chronic myopathy with excessive accumulation of rod structures, indicative of nemaline rod myopathy, and fatty replacement within the muscle; NEB gene sequencing test result: heterozygous in the NEB gene for a mutation defined as c.3252_3255+3delTGACGTA, which includes the terminal four nucleotides of exon 32 and the first three nucleotides of intron 32, this region covers the conserved GT splice donor signal; array comparative genomic hybridization (aCGH) test result: heterozygous for ~2.7 kb deletion within the NEB gene encompassing exon 77 with genomic locations 152,469,299 in intron 77 and 152,471,995 in intron 76 (GRCh37/hg19); management: physical therapy, occupational therapy, psychological therapy and speech language therapy; surgeries:pharyngeal flap, g-tube, and tonsillectomy; medications: l-tyrosine + l-carnitine, Miralax, Prilosec, mesalamine; assistive devices: wheelchair, orthotics, service animal, respiratory support used at night.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: NEB
Disease疾病類型:
Mutations突變: c.3252_3255+3DELTGACGTA del encompassing exon 77
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net