GM27144 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27144 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line
线形肌病 3； NEM3 |肌动蛋白、α-1、骨骼肌； ACTA1细胞株
Description描述：Clinically affected; age of diagnosis is 10 weeks; age of symptom onset was at birth; born with severe arthrogryposis and respiratory failure; talipes equinovarus deformity of foot bilaterally; significant genu valgus at the knees; myopathic facial appearance; prominent thoracic kyphoscoliosis with a compensatory exaggerated lumbar lordosis and cervical lordosis; previous significant recurrent respiratory tract infections; nocturnal hypoventilation requiring gastronomy feeds; developmental delay; can use some words and noises to communicate; low level of intellectual functioning; able to mobilize up to a half an hour using a walker frame; de novo heterozygous variant found on exon 3 in ACTA1 gene c.215C>G (p.Pro72Arg); muscle biopsy noted the presence of fuscinophilic rod bodies within some of the muscle fibres studied, nemaline rods in numerous fibres found which led to diagnosis of nemaline rod myopathy; neuropsychological assessment found significant deficits in physical, motor, speech, and expressive language skills; assistive devices include wheelchair, orthotics, communication/learning device, and non-invasive ventilation/walker; medications include L-tryosine; surgeries include gastrostomy, fundoplication, and orchiopexy; uses BiPAP mainly at night; severe respiratory issues began to improve once given antibiotics, regular chest physiotherapy, use of a vibration plate, regular hypertonic saline nebs 3 times per day, and regular suctioning; fibro (GM27145).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM27144
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:8 YR
Gender性别:Male
Cell Type细胞类型: NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
Affected State:Yes
Product:LCL
Gene:ACTA1
Mutations突变:c.215C>G
Ethnicity:English, Irish, German
Family:3400
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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