GM23784
Fibroblast from Skin, Unspecified
Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Family Member
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1
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Family History
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N
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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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| PDL at Freeze |
2.15 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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.
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| Remarks |
Clinically affected; onset of symptoms before age 1 year; motor delay at 3 months of age; limb posturing at 18 months; onset of self-injury at 4 years; hypotonia; dystonia; epileptic seizures; less than 1 percent of HPRT enzyme activity; physical and occupational therapy; psychological therapy; speech therapy; orthotics; donor subject is hemizygous for a G>A transition in intron 7 of the HPRT1 gene (IVS7+5G>A); affected brother is GM23785. |
| Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A, Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening JCI insight: 2020 |
| PubMed ID: 31990683 |
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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 |
| Cumulative PDL at Freeze |
5.69 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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