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GM20214 LCL from B-Lymphocyte

Description:

LANGER MESOMELIC DYSPLASIA
SHORT STATURE HOMEOBOX; SHOX

Affected:

Yes

Sex:

Female

Age:

84 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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.

Characterizations

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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

Phenotypic Data

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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.

Publications

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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

External Links

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dbSNP dbSNP ID: 18127
Gene Cards SHOX
Gene Ontology GO:0001501 skeletal development
GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from Pol II promoter
GO:0007275 development
NCBI Gene Gene ID:6473
NCBI GTR 249700 LANGER MESOMELIC DYSPLASIA; LMD
312865 SHORT STATURE HOMEOBOX; SHOX
OMIM 249700 LANGER MESOMELIC DYSPLASIA; LMD
312865 SHORT STATURE HOMEOBOX; SHOX
Omim Description DYSCHONDROSTEOSIS, HOMOZYGOUS
  LANGER TYPE MESOMELIC DWARFISM
  MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA AND MANDIBLE TYPE

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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