GM26642 EHLERS-DANLOS SYNDROME, TYPE I; EDS1 | COLLAGEN, TYPE V, ALPHA-1; COL5A1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26642 EHLERS-DANLOS SYNDROME, TYPE I; EDS1 | COLLAGEN, TYPE V, ALPHA-1; COL5A1 B-Lymphocyte Cell Line
埃勒斯-当洛斯综合征，I 型； EDS1 | V 型胶原蛋白，ALPHA-1；彩色5A1细胞株
Description描述：Clinically affected; Gene panel sequencing with assembly hg19 revealed a heterozygous mutation of uncertain significance in exon 39 of the COL5A1 gene c.3023C>T (p.Thr1008Met); myopia diagnosed at age 8, vision was 20/400 at age 14 and worsening; cognitive impairment diagnosed at age 8, hypertonia diagnosed at age 14; hypotonia diagnosed at age 14; Aspbergers diagnosed at age 10; Autism spectrum disorder diagnosed at age 10; Repetitive or self-injurious behavior diagnosed at age 12; aggressive/violent behavior diagnosed at age 10; anxiety diagnosed at age 8; depression diagnosed at age 10; OCD diagnosed at age 8; short attention span diagnosed at age 8; atrophic scars present all over body and diagnosed at age 11; hyperpigmentation present at birth; hyperelastic skin diagnosed at age 14; curvature of spine diagnosed at age 10; flexible joints diagnosed at age 14; muscle function issues diagnosed at age 14; muscle underdevelopment diagnosed at age 14; esophageal problems diagnosed at age 10; stomach issues diagnosed at age 10; dysmotility present before birth; sphincter of oddi dysfunction diagnosed at age 10; autoimmune disorder diagnosed at age 10; increased inflammatory response diagnosed at age 14; recurrent infections diagnosed at age 14 ; intermittent sleep problems; pain in ankles after walking, constant back pain, swollen feet; persistent rash (2.5 years); frequent headaches, sometimes with nausea and light sensitivity; difficulty concentrating, anhedonia; medications include: dapsone, guanefacine, vyvance, fluoxetine, fish oil, amitriptyline; treatment for depression, anxiety, and ADHD; tonsils removed at age 5; blood analysis revealed low white blood cell count, low mean cell HGB, high lymphocyte percentage, low granulocyte concentration; slight neutropenia; many methicillin-sensitive Staph aureus with small amount of usual mixed skin flora; low immunoglobulin A levels, low creatinine levels, high SGPT/ALT; esophagogastroduodenoscopy revealed bile gastritis; intestinal biopsy revealed lactase deficiency; mother is GM26643
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26642
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:14 YR
Gender性别:Male
Cell Type细胞类型: EHLERS-DANLOS SYNDROME, TYPE I; EDS1 | COLLAGEN, TYPE V, ALPHA-1; COL5A1
Affected State:Yes
Product:LCL
Gene:COL5A1
Mutations突变:c.3023C>T (p.THR1008MET)
Ethnicity:Cherokee 1/16th
Family:3380
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:

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
http://www.biovector.net