Name細胞名稱：NTCC? GM25151 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line
線狀肌病 2，常染色體隱性遺傳； NEM2 |星云蛋白；鼻細胞株
Description描述：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.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM25151
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:16 YR
Gender性別:Female
Cell Type細胞類型: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:LCL
Gene:NEB
Mutations突變:c.3252_3255+3DELTGACGTA del encompassing exon 77
Ethnicity:French/Canadian, Scandinavian, German
Family:3164
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細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