GM26636 VICI SYNDROME; VICIS | ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26636 VICI SYNDROME; VICIS | ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5 Cell Line
维西综合症；维西斯|异位 P-颗粒自噬蛋白 5，线虫，同系物； EPG5细胞株
Description描述：Clinically affected; symptom onset began at 3 months; mother noted decreased movement towards end of pregnancy; mother was on enoxaparin during pregnancy; at 3 months of age, MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination, failure to thrive; facial dysmorphism; symptoms include seizures, brain abnormalities including agenesis of the corpus callosum, cataracts, optic atrophy, chronic lung disease, mild hypertrophic cardiomyopathy, severe myopathy/hypotonia, GI dysmotility with G-tube, multiple pneumonias, urosepsis, obstructive sleep apnea, unable to follow verbal commands (this milestone has since been achieved); normal karyotype, WES GeneDx; genetic testing revealed a homozygous recessive mutation in the EPG5 gene: c.1007A>G (p.Q336R); treatments: G-tube, Nissan fundoplication, physical therapy, speech therapy, occupational therapy; assisted devices: wheelchair, orthotics, communication/learning device; no family history of the disease; parents are non-consanguineous; PubMed ID# 26917586, 27343256, 27343258; same subject as GM26249 (lymph)and GM27291 (stem cell); unaffected carrier mother is GM26251 (Lymph); unaffected carrier father is GM26250 (Lymph) and GM27894 (fibro); unaffected sister is GM27895 (fibro).
Category分类：Fibroblast
ID编号:NTCC®-GM26636
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 YR
Gender性别:Male
Cell Type细胞类型: VICI SYNDROME; VICIS | ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5
Affected State:Yes
Product:Fibroblast
Gene:EPG5
Mutations突变:p.Q336R; c.1007A>G
Ethnicity:Ashkenazi Jewish
Family:3361
Relationship:proband
Karyotype:46,XY[24].arr[hg19] 4q12(57,053,403-58,256,363)x3
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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