GM23814
Fibroblast from Skin, Unspecified
Description:
LESCH-NYHAN SYNDROME; LNS
|
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 History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.34 |
| Passage Frozen |
2 |
| |
| hypoxanthine phosphoribosyltransferase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity.
EC Number: 2.4.2.8; 20% activity. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
308000.0060; LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT |
| Identified Mutation |
ARG48HIS |
| Remarks |
Clinically affected; variant; onset of symptoms in first year of life; mild dystonia; hyperreflexia; clonus; IQ = 96; onychophagia; residual HGPRT enzyme activity is 20% in cultured fibroblasts; no assistive devices used; donor subject is hemizygous for a G>A transition at nucleotide 143 in exon 3 of the HPRT1 gene (143G>A) resulting in the substitution of histidine for arginine at codon 48 [Arg48His (R48H)]. |
| Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG, Lesch-Nyhan Disease International Study Group JG, Attenuated variants of Lesch-Nyhan disease Brain : a journal of neurology133:671-89 2010 |
| PubMed ID: 20176575 |
| |
| Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA, Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants Human genetics129:71-8 2010 |
| PubMed ID: 20981450 |
| Cumulative PDL at Freeze |
4.34 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|
|