GM25596 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® GM25596 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 at age 15; symptoms onset at birth; conception after low dose clomid therapy twice monthly; initial ultrasound at 11-12 weeks gestation noted twin gestation, but repeat ultrasounds triggered by pain at 28 weeks noted only 1 fetus; mother experienced significant nausea and vomiting during pregnancy; mother ran into electric fence during pregnancy; normal fetal movement; birth weight: 2722g (10th centile); length: 51 cm (75th centile) and OFC: 35.2 cm (70th centile) at day of life 6; presented day of life 4 with hypotonia, poor feeding, dehydration, jaundice, and elevated alkaline phosphatase of 293 IU,GGT of 802 IU (70-295),ALT 51 (6-50 IU/L), AST 56 (10-60 IU/L) ; at age 2 weeks ALT rose to 201 and AST to 236; at 10 weeks ALT was 200 and AST 236; did not feed well immediately after birth; osteopathic physician realigned overriding skull sutures, patient began eating better after this procedure; esotropia; lagophthalmous; plagiocephaly; anisocoria; hypotonia; dystonia; choreiform movements; delayed skeletal maturation; skeletal muscle atrophy; severe developmental delay; severe intellectual disability; microcephaly; cerebellar atrophy; no pincer grasp; deep reflexes hypoactive; non-verbal; seizure disorder; seizures began at age 10 with eyelid fluttering, eye deviation, and perioral cyanosis; severe axonal sensorimotor polyneuropathy with associated muscle wasting; erythematous perifollicular hyperkeratotic papules on all extremities; cyanosis below eyes and lips; constipation; malnutrition with low vitamin D levels; history of hepatomegaly; severe scoliosis; right hip subluxed; diffuse osteopenia; right femur and humerus dislocation; osteoporosis; somatic dysfunction of skull, membranous articular strain of the dura of the skull; reduced bone mineral density; bilateral coxa valga; takes very long time to wake up from anesthesia; transaminase levels elevated to the 300s; elevated serum creatine phosphokinase; increased resting energy expenditure; exaggerated cellular immune response; loss of sweat function in the distal leg limb, suggesting a length-dependent small fiber neuropathy; blink apraxia; exposure keratitis; inferior corneal thickening and inflammation; alacrima; neovascularization; ptosis; no synchronous activity though 8th cranial nerve; cannot recognize speech but can recognize the presence of sounds; dental enamel slightly different from others; bruxism; liver biopsy noted cirrhosis, yet was normalized by age 6-7; EMG/NCS noted severe axonal sensorimotor poly neuropathy, motor nerves may be slightly more affected than sensory; EEG found mild to moderate cerebral dysfunction; MRS found reduced brain N-acetyl aspartate levels and elevated brain choline levels; urine oligosaccharide analysis showed prominent species at m/z=991, a finding seen frequently in NGLY1-CDG individuals; exome sequencing (UCSC hg19) of the NGLY1 gene revealed that the donor is a compound heterozygote for the following mutations: maternally inherited c.347C>G (p.S116X) in exon 3 and paternally inherited c.881+5G>T (IVS5+5G>T) in intron 5, predicted to abolish the splice donor site of exon 5 causing abnormal gene splicing; donor subject is also heterozygous for the p.G531R mutation in the MYBPC3 gene associated with hypertrophic cardiomyopathy; rod placement in lower back due to scoliosis; pseudomonas wound infection from spinal fusion surgery; uses computer dinavox to communicate; scleral injections in both eyes; strabismus surgery at age 3; physical, occupational, and speech therapy; used nebulized albuterol and pulmicort after repeated bronchitis; keppra 1250 mg twice daily, miralax 17 g daily in AM, glycerin 1.5 g per rectum as needed, refresh PM 0.5 inch ribbon to both eyes once daily at bedtime, refresh eye drops 1-2 drops to both eyes as needed and daily; maternal aunt锟絪 son has cerebral palsy; mother (GM25597 B-lymphocyte; GM26599 fibroblast) and father (GM25598 B-lymphocyte; GM26600 fibroblast) also in repository; see GM26598 for fibroblast; [Clinical information from publication by J. Heeley and M. Shinawi 2014 锟?PMID 25707956].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25596
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:15 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:c.347C>G c.881+5G>T
Ethnicity:English/American Indian/Scottish
Family:3259
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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