GM25990 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25990 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 Skin, Skin 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 3 years 4 months of age; onset of symptoms from birth; 2nd trimester pregnancy positive screen for Smith-Lemli-Opitz syndrome and trisomy 18: alpha-fetoprotein (AFP) 1.63 multiple of the median (MoM), unconjugated estriol (uE3) 0.26 MoM, human chorionic gonadotrophin 0.54 MoM, inhibin 1.02 MoM, amniocentesis karyotype was normal; born by Cesarean section at term due to concerning fetal heart tracing; monitored in NICU due to poor feeding and lethargy; neonatal period: hyperbilirubinemia treated with phototherapy; elevated liver transaminases and transient thrombocytopenia, in infancy: global developmental delay, acquired macrocephaly, bilateral exotropia, hypotonia, constipation, at 1 year: no tears while crying, but enough to keep eyes moist, once-daily staring spells for about 15 seconds each, at 17 months: developed extrapyramidal movement disorder with asynchronous myoclonic jerks of the limbs and shoulders and subtle choreoathetotic movements of the hands and fingers; 4 years of age: ambulated unassisted with unsteady gait, communicated with use of vocalizations, gestures, and an assistive communication device; donor subject noted to have: small hands/feet; chalazions; strabismus; ocular apraxia; auditory brainstem response abnormalities; elevated blood lactate levels (3.7-7.5 mmol/l in infancy, 6.4 mmol/l at 21 months, 6.7 mmol/l at 31 months, 3.7 mmol/l at 32 months); liver storage or vacuolization; MRI results: mild global reduction in cerebral hemisphere volume and thin corpus callosum and anterior commissure noted in MRI at 17 months, MRS normal; whole genome sequencing (Sanger, Next-Generation Sequencing, hg19) performed at two different institutions revealed the donor subject is compound heterozygous for two mutations in the NGLY1 gene: a 3-base pair in-frame TTC> deletion beginning at position 3:25775416 (c.1205_1207del, p.402del) also identified in the proband锟絪 mother (not in repository) and a stop-gain mutation at position 3:25761670 (c.1570C>T, p.R542X) also identified in proband锟絪 father (not in repository); medications/supplements: N-acetylcysteine, Periactin, Miralax, Cocoavia, Theratears eye drops, Refresh PM ointment, children's probiotic, Albuterol inhaler; management: physical therapy, occupational therapy, and speech language therapy; assistive devices: orthotics and communication/learning device. [Donor subject is referenced as Patient 3 in publication by Enns et al. 2014 - PMID 24651605.]
Category分类：Fibroblast
ID编号:NTCC®-GM25990
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:8 MO
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:3-BP DEL, 1205 TTC ARG542TER, c.1570C>T
Ethnicity:German/Irish/Scottish/Swedish/Dutch/Italian
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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