GM26596 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® GM26596 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; diagnosed at 5 years; symptoms onset at birth; pregnancy complicated by contractions at 30 weeks secondary to maternal urinary tract infection treated with antibiotics with subsequent positive fetal fibronectin testing; decreased fetal movement noted between 30-32 weeks gestation; born at 34 weeks via C-section due to fetal bradycardia (60-70 bpm x 6 minutes); oligohydramnios; abnormal birth weight, length, and head circumference; absence of right kidney; facial dysmorphology with overlying sutures noted at birth, originally attributed to birth position; posterior hair whorl; low posterior hair line; abnormal face shape; lagophthalmos; global developmental delay; delayed gross and fine motor development; intellectual disability; mild enlargement of the extra-axial CSF spaces in the supratentorial brain that may represent benign enlargement of the subarachnoid spaces; abnormality of peripheral nerve conduction; sleep disturbances; bruxism; non-verbal; intractable epilepsy (akinetic, myoclonus, GTC); choreoathetoid; hypotonia; difficulty walking and sitting; chronic stridor; hip subluxation; osteopenia; exaggerated cellular immune response; constipation; abnormality of cornea, retina, and optic nerve; ptosis; alacrima; anisocoria; deafness; vocal cord paralysis; laryngomalacia exacerbated by gastrointestinal reflux; GERD; daily projectile vomiting during first year of life; uncoordinated chewing and swallowing; history of elevated transaminases; elevated creatine kinases; hypohidrosis; EEG abnormality and generalized slow activity; neuroimaging showed large cerebellar vermis and abnormal brainstem morphology; MRS showed reduced brain N-acetyl aspartate levels and elevated brain choline levels; skeletal imaging showed abnormality of calvarial morphology, upper limb, pelvic girdle bone morphology, and coxa valga; genetic testing revealed maternally inherited mutation (c.1604G>A) in the NGLY1 gene resulting in p.W535X, paternally inherited mutation (c.1910delT) in the NGLY1 gene resulting in p.L637X, maternally inherited hemizygous mutation in the EDA gene resulting in R69L associated with x-linked hypohidrotic ectodermal dysplasia, paternally inherited heterozygous mutation in the RET gene resulting in R813Q associated with sporadic short-segment Hirschsprung, and paternally inherited heterozygous mutation in SIX5 gene resulting in T552M associated with cervical fistula, renal agenesis/hypoplasia/hearing loss; tracheostomy placement in 2011; Nissen and g-tube placement at 16 months old; depakote 150/150/200 mg g-tube 3 times daily; clobazam 5 mg/6.25 mg g-tube; mother (GM26597) is also in the repository; see GM26595 for B-lymphocyte.
Category分类：Fibroblast
ID编号:NTCC®-GM26596
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:Fibroblast
Gene:NGLY1
Mutations突变:c.1604G>A c.1910delT
Ethnicity:German/French/Canadian/Mixed European
Family:3375
Relationship:proband
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
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