Name細胞名稱：NTCC? GM20212 LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX B-Lymphocyte Cell Line
蘭格間質發育不良 |身材矮小同源盒； SHOX細胞株
Description描述：Clinically affected; anthropometric measurements at age 35.2 years: height = 122.1 cm, height SD score = -6.8, upper to lower segment ratio = 2.1, upper to lower segment z-score = 38.7, arm span = 96.3 cm, arm span z-score = -8.7, right tibial length z-score = -7.8, right radial length z-score = -7.4, fourth metacarpal z-score = -1.7; menarche at age 11; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; parents had classic Leri-Weill dyschondrosteosis; sibling, GM20213, affected with Langer mesomelic dysplasia; subject has daughter with Leri-Weill dyschondrosteosis and hypochondroplasia and a son with Leri-Weill dyschondrosteosis; donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM20212
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:35 YR
Gender性別:Female
Cell Type細胞類型: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Affected State:Yes
Product:LCL
Gene:SHOX
Mutations突變:DEL
Ethnicity:
Family:2463
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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