GM25347 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25347 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 B-Lymphocyte Cell Line
先天性去糖基化障碍； CDDG | N-聚糖酶1； NGLY1细胞株
Description描述：Clinically affected; diagnosed by geneticist at 2 years of age; onset of symptoms at birth; delivered by Cesarean section at 38 weeks gestation when fetal distress was noted on cardiotocography; intrauterine growth restriction; neonatal jaundice; hypotonia; constipation in infancy; intermittent head flexion at 6 months; global developmental delay; movement disorder; involuntary movements of upper extremities noted at 8 months; seizures - mild myoclonic seizures with head and body flexion occurred and evolved to single, symmetric spasms with bilateral arm extension shortly after 8 months; abnormal sleep patterns characterized by paucity of deep sleep and frequent awakenings; alacrima (abnormal tear production); unilateral ptosis; recurrent episodes of keratoconjunctivitis and poor lid closure during sleep; corneal ulcerations/scarring; chalazions; strabismus; decreased deep tendon reflexes; liver fibrosis; scoliosis; small hands and feet; donor subject learned to crawl and communicate with vocalizations; auditory brainstem response hearing abnormalities detected; electroencephalography (EEG) at 8 months showed generalized polyspike discharges; brain imaging (MRI) at various ages revealed: delayed myelination at 6 months, delayed myelination and supratentorial atrophy secondary to steroid therapy at 10 months, delayed myelination and recovery from supratentorial atrophy at 19 months; elevated blood lactate; elevated liver transaminases (three to four times upper limit of normal) noted in infancy; elevated alpha-fetoprotein; genetic testing revealed homozygous recessive nonsense mutation in NGLY1 gene: c.1201A>T (p.R401X) - found on both the maternal and paternal alleles by Sanger sequencing; management: physical therapy, occupational therapy, speech language therapy; medications: Lamictal, Depakote; epilepsy has been intractable despite many therapeutic trials; described as patient 4 by Enns et al 2014 (PMID 24651605); unaffected carrier mother is GM25348 (lymphoblast).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25347
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: CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
Affected State:Yes
Product:LCL
Gene:NGLY1
Mutations突变:ARG401TER
Ethnicity:German
Family:3200
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
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