GM20214
LCL from B-Lymphocyte
Description:
LANGER MESOMELIC DYSPLASIA
SHORT STATURE HOMEOBOX; SHOX
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 1 |
R153C; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
ARG153CYS |
| |
| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 2 |
V163F; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
VAL163PHE |
| Remarks |
Clinically affected; anthropometric measurements at age 84.9 years: height = 130 cm, height SD score = -5.5, upper to lower segment ratio = 1.3, upper to lower segment z-score = 13.7, arm span = 105.3 cm, arm span z-score = -7.9, right tibial length z-score = -5.7, right radial length z-score = -6.3, fourth metacarpal z-score = -2.3; menarche at age 13 years; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 457 in exon 3 of the SHOX gene [457C>T] resulting in a substitution of cysteine for arginine at codon 153 [Arg153Cys (R153C)] and a second allele has a G>T transversion at nucleotide 487 in exon 4 of the SHOX gene [487G>T] resulting in a substitution of phenylalanine for valine at codon 163 [Val163Phe (V163F)]; subject's mother reportedly had short stature (152 cm) and short arms and father reportedly had normal stature (178 cm) and short arms. |
| Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL, Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet110(2):158-63 2002 |
| PubMed ID: 12116254 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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