GM26267 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® GM26267 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; born at 38 4/7 weeks; delivered via emergency C-section after loss of fetal heart tones when epidural was placed; maternal labs and screens were normal; maternal history significant for hypertension (on labetalol) and anxiety/depression (on Prozac) and chronic glucosuria; respiratory support needed as a newborn; weak cry, apneic with hypotonia/neonatal encephalophathy, and poor feeding after birth; APGARS at 1, 5, 10, 15, and 20 minutes respectively were 4, 2, 5, 5, and 5; decreased range of motion on hand and metacarpophalangeal joints (MCP); mild facial dysmorphisms; creatine kinase (CK) was initially elevated, but became normal; weak with normal cognitive function; thrombocytosis, gastroesophageal reflux disease (GERD), trach/vent and G tube dependent; significant hospitalizations/procedures: partial uncovering of right femoral head in adduction (pelvis and hips) as an infant, echocardiogram (normal chamber sizes, valvular and ventricular systolic function), flexible bronchoscopy via tracheostomy, inpatient hospitalization for hypoxemia (PICU), laparoscopic gastrostomy tube insertion, EMG nerve conduction study - abnormal due to findings of generalized myopathy, brain MRI (but the location is a possible site of acute ischemia, otherwise normal), portable EEG could be consistent with presence of very mild diffuse cerebral dysfunction - no definite epileptiform activity or electrographic seizures were seen; histologic evaluation of right thigh muscle biopsy showed variation in fiber size with angulated small fibers scattered between normal and slightly hypertrophied fibers; genetic sequencing using genomic DNA revealed two heterozygous variants in the ACTA1 gene: in exon 3 - c.285_286delGC predicted to result in a frame-shift and premature protein termination (p.Glu95Aspfs*32) and in exon 5 - c.644A>T predicted to result in the amino acid substitution p.Lys215Met; current medications and treatments include: daily pulmonary toilet regimen, chest physical therapy with vest for 20 minutes, cough assist suction, Albuterol via nebulizer, Charithromycin, Epinephrine, Cetirizine, oxygen, Benefiber, Omeprazole, prune juice, hydrocortisone (for skin care), A & D Zinc Oxide cream, Triamcinolone Acetate; Zofran (ondansetron), Dextran, Cefazolin (for allergies); Children's Tylenol (Acetominophen), ibuprofen; medical equipment/devices include: ventilator, trachoestomy-Bivona pediatric Flextend TTS cuffed, oxygen concentrator, humidification heater, vest airway clearance system, pulse oximeter CO2 monitor, G-tube, feeding pump, diapers, medical bed, powered wheel, stander, thoracic-lumbar-sacral-orthotic (TLSO) brace, ankle-foot orthotic (AFO) brace for left leg for use in stander, and supra malleolar orthotic (SMO) leg brace for right leg for use in stander; assistive communication tools; therapies: occupational therapy, speech and language therapy, music therapy, developmental therapy; family history: no history of neurological diseases on maternal or paternal side, maternal 2nd cousin has neural tube defect (NTD), paternal uncle with history of "passing out" or fainting; mother is GM26190 (lymph)and dad is GM26191 (lymph).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26267
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:3 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.285_286delGC c.644A>T
Ethnicity:Austr/Pol/German/Engl/Scot/Norw/Irish/French/Aryes
Family:3351
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