Name細胞名稱：NTCC? GM23681 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 B-Lymphocyte Cell Line
烏爾里希先天性肌營養(yǎng)不良癥； UCMD1 | VI 型膠原蛋白，ALPHA-2；科爾6A2細胞株
Description描述：Clinically affected; walked at 14 months; holds head up, turns in bed, sits, stands, and walks (indoors and out) without assistance; can climb stairs with a handrail; unable to rise from floor at age 15 years old; generalized weakness (proximal > distal); toriticollis; undescended testes (orchiplexy); Goldenhaur syndrome; contractures (finger flexors, elbows, hips, knees, ankles); distal laxity in fingers; hyperkeratosis pilaris; restrictive lung disease; cardiac assessment notes narrow pulmonary valve treated in past with balloon stenting; creatine phosphokinase = 550; muscle biopsy noted to have dystrophic appearance; MRI of muscle showed diffuse fatty infiltration in the gluteal region; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 901 in exon 8 of the COL6A2 gene (901G>A) resulting in a substitution of serine for glycine at codon 301 [Gly301Ser (G301S)]; and the second allele has a C>T transition at nucleotide 1552 in exon 19 (1552C>T) resulting in the substitution of serine for proline at codon 518 [Pro518Ser (P518S)].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23681
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:16 YR
Gender性別:Male
Cell Type細胞類型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Affected State:Yes
Product:LCL
Gene:COL6A2
Mutations突變:GLY301SER PRO518SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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