GM26586 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26586 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 Skin, Arm 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 at 2 years old; decreased fetal movement; abnormal birth weight, length, and head circumference; failure to thrive; high nasal bridge with anteverted nares; ears posteriorly rotated; mild retrognathia; tented upper lip; down turned corners of mouth; high-arched palate; conjunctival erythema in a horizontal band located around the site where the upper and lower eyelids meet; abdominal distention in infancy; global developmental delay; diagnosed with larygomalcia at 6 months; rolled over at 12 months, sat unpropped for 5 minutes at 13 months old, began to pull up to stand and cruise at age 3; elevated transaminases as an infant; paralyzed vocal cords; GERD; severe reflux; constipation; organic aciduria; corneal scarring; hypolacrima; hypohydrosis; optic disk pallor; auditory neuropathy spectrum disorder; obstructive sleep apnea; weakness in extremities and trunk; hypotonic; diminished reflexes; ataxia; chorea; significantly delayed in all gross and fine motor skills, speech, and cognitive function; absent pincer grasp; severe intellectual disability; delayed skeletal maturation; tracheomalacia; dysmetria; choreiform movements induced by change in position; liver shows slight fatty texture; non-ambulatory; deafness due to problems processing stimulus; asthma; increased serum pyruvate and lactate; concentrations of homovanillic acid and tetrahydrobiopterin below reference ranges; decreased resting energy expenditure and plasma carnitine; hepatic steatosis; exaggerated cellular immune response; hyperammonemia; exome analysis showed a homozygous nonsense mutation (c.1201A>T) in the NGLY1 gene that resulted in p.R401X; NIHFA score is 6/24; MRI showed mild deficit of NAA in the left centrum semiovale and pons and mild mucosal inflammation involving most of the paranasal sinuses; EMG found sensorimotor neuropathy with axonal and demyelinating features; QSWEAT found abnormal sweat response most likely related to peripheral neuropathy; cranial nerve studies found abnormalities in optic nerve; auditory evaluation found that processing/coding of sound in the auditory neural tracts of the brainstem are disorganized; skeletal imaging showed abnormality of the vertebral column, kyphosis, osteopenia, and coxa valga; abnormal muscle biopsy; physical therapy; occupational therapy; medications include omeprazole 10 mg PO twice a day, miralax 1 teaspoon daily in AM, refresh ointment as needed, carnitine 100 mg 3 times daily, ubiquional 100 mg 3 times daily; wheelchair; affected sibling (GM26584 fibroblast) and unaffected mother (GM26587 B-lymphocyte) and father (GM26588 B-lymphocyte) also in repository; for B-lymphocyte see GM26585.
Category分类：Fibroblast
ID编号:NTCC®-GM26586
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:4 YR
Gender性别:Female
Cell Type细胞类型: CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
Affected State:Yes
Product:Fibroblast
Gene:NGLY1
Mutations突变:ARG401TER
Ethnicity:
Family:3374
Relationship:sibling
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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