GM25340 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® GM25340 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; onset of symptoms at birth; diagnosed with N-glycanase deficiency at 4 years of age; symptoms at birth: neonatal jaundice, global developmental delay, hypotonia, involuntary movements (athetosis involving the trunk and extremities and constant lip smacking and pursing), intractable multifocal epilepsy (consisting of myoclonic seizures, drop attacks, and staring or tonic episodes), abnormal liver function; At 15 months of age subject showed regression of motor development; At 4 years of age subject was noted to have cortical vision impairment, congenital alacrima (absence of tears), corneal ulcerations with scarring; At 5 years of age subject continues to have movement disorder, able to sit up, able to reach for objects and transfer them from hand to hand, never developed speech, abnormal EEG, decreased deep tendon reflexes, seizures, chalazions, elevated liver transaminases, elevated AFP, liver fibrosis, liver storage or vacuolization, constipation, peripheral neuropathy, small hands and feet; brain MRI at 8 months was normal but brain MRI at 15 months detected prominent perivascular spaces with surrounding gliosis in periatrial white matter and mildly delayed myelination; liver biopsy showed inflammatory changes with an amorphous substance in the cytoplasm; abnormal urine oligosaccharides with keratan sulfate, heparan sulfate, and chondroitin sulfate; testing for congenital disorders of glycosylation was normal by transferrin isoelectric focusing and N-glycan analysis; biochemical testing by Western blot showed no detectable NGLY1; molecular genetic testing by whole exome sequencing (WES) revealed compound heterozygous mutations in the NGLY1 gene: maternally inherited c.1891delC (p.Q631fs - frameshift mutation in exon 12) and paternally inherited c.1201A>T (p.R401X - nonsense mutation in exon 8); treatment and management includes: medications, physical therapy, occupational therapy, and speech language therapy; assistive devices: wheelchair, braces, orthotics, communication/learning device; mother (GM25341); father (GM25342) . [Subject is referenced as Trio 2 in publication by Needs et al 2012 锟?PMID 22581936, and Patient 1 in publication by Enns et al. 2014 - PMID 24651605]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25340
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:6 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 c.1891delC
Ethnicity:Puerto Rican/German/Polish
Family:3199
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:

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