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GM23785 Fibroblast from Skin, Unspecified

Description:

LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT

Affected:

Yes

Sex:

Male

Age:

19 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
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race White
Ethnicity Not Hispanic/Latino
Family Member 2
Family History Y
Relation to Proband brother
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; symptom onset before 1 year of age; delivered by Caesarean section because of fetal distress; onset of self-injury at age 3 years; motor delay at age 6 months; spasticity of legs and arms; rigidity in arms; limb posturing at 18 months of age; dystonia; hyper-reflexia of legs; clonus of ankles; gastrostomy tube; HPRT mutation: hemizygous for a G>A transition in intron 7 of the HPRT1 gene (IVS7+5G>A); HPRT enzyme: <1%; treatments include physical, occupational therapy, psychological therapy, and speech therapy; medications include diazepam, omeprazole, cetirizine, and fluticazone; orthotics; affected brother is GM23784

Characterizations

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PDL at Freeze 1.97
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene HPRT1
Chromosomal Location Xq26-q27.2
Allelic Variant 1 308000.0031; LESCH-NYHAN SYNDROME
Identified Mutation IVS7DS, G-A, +5; In cell line RJK1934 from a patient with LNS, Gibbs et al. (1990) found a GTAAGT-to-GTAAAT change at the beginning of intron 7. Interference with processing resulted from mutation in the donor splice site. See 308000.0029 for the corresponding mutation in intron 8.

Phenotypic Data

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Remarks Clinically affected; symptom onset before 1 year of age; delivered by Caesarean section because of fetal distress; onset of self-injury at age 3 years; motor delay at age 6 months; spasticity of legs and arms; rigidity in arms; limb posturing at 18 months of age; dystonia; hyper-reflexia of legs; clonus of ankles; gastrostomy tube; HPRT mutation: hemizygous for a G>A transition in intron 7 of the HPRT1 gene (IVS7+5G>A); HPRT enzyme: <1%; treatments include physical, occupational therapy, psychological therapy, and speech therapy; medications include diazepam, omeprazole, cetirizine, and fluticazone; orthotics; affected brother is GM23784

Publications

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Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG, Lesch-Nyhan Disease International Study Group SG, Delineation of the motor disorder of Lesch-Nyhan disease Brain : a journal of neurology129:1201-17 2006
PubMed ID: 16549399

External Links

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Gene Cards HPRT
HPRT1
Gene Ontology GO:0000287 magnesium ion binding
GO:0004422 hypoxanthine phosphoribosyltransferase activity
GO:0005737 cytoplasm
GO:0006166 purine ribonucleoside salvage
GO:0007610 behavior
GO:0009116 nucleoside metabolism
GO:0016757 transferase activity, transferring glycosyl groups
NCBI Gene Gene ID:3251
NCBI GTR 300322 LESCH-NYHAN SYNDROME; LNS
308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
OMIM 300322 LESCH-NYHAN SYNDROME; LNS
308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
Omim Description LESCH-NYHAN SYNDROME; LNS

Culture Protocols

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Cumulative PDL at Freeze 3.6
Passage Frozen 2
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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