Description:
CANAVAN DISEASE
ASPARTOACYLASE; ASPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
GeT-RM Samples |
| Class |
Disorders of the Nervous System |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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JEWISH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
6.87 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| N-ACETYLASPARTOACYLASE |
Dr Reuben Matalon (personal communication) has reported that this fibroblast culture shows N-acetylaspartoacylase activity which falls in the deficient range. |
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| MUTATION VERIFICATION |
The gene mutation(s) in this sample have been verified by 6 laboratories. |
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
608034.0001; CANAVAN DISEASE |
| Identified Mutation |
GLU285ALA; In 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent, Kaul et al. [Nat Genet 5: 118 (1993)] found a missense glu285-to-ala mutation. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. Elpeleg et al. [Am J Hum Genet 55: 287 (1994)] found that the A-to-C transition at nucleotide 854 of the cDNA was present in homozygous state in all 18 patients with Canavan disease observed in Israel. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59. |
| |
| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 2 |
608034.0001; CANAVAN DISEASE |
| Identified Mutation |
GLU285ALA; In 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent, Kaul et al. [Nat Genet 5: 118 (1993)] found a missense glu285-to-ala mutation. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. Elpeleg et al. [Am J Hum Genet 55: 287 (1994)] found that the A-to-C transition at nucleotide 854 of the cDNA was present in homozygous state in all 18 patients with Canavan disease observed in Israel. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59. |
| Remarks |
Jewish; spasticity; retardation and megalencephaly; donor subject is homozygous for an A>C transversion at nucleotide 854 of the ASPA gene [854A>C] resulting in a substitution of alanine for glutamic acid at codon 285 [Glu285Ala (E285A)].
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| Feng L, Chao J, Zhang M, Pacquing E, Hu W, Shi Y, Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases iScience26:108037 2023 |
| PubMed ID: 37867939 |
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| Feng L, Chao J, Tian E, Li L, Ye P, Zhang M, Chen X, Cui Q, Sun G, Zhou T, Felix G, Qin Y, Li W, Meza ED, Klein J, Ghoda L, Hu W, Luo Y, Dang W, Hsu D, Gold J, Goldman SA, Matalon R, Shi Y, Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs Advanced science (Weinheim, Baden-Wurttemberg, Germany)7:2002155 2020 |
| PubMed ID: 33304759 |
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| Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Costa AL, Djouadi F, Andresen BS, Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease Molecular genetics and metabolism7:2002155 2018 |
| PubMed ID: 30446350 |
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| Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
| PubMed ID: 19815695 |
| Cumulative PDL at Freeze |
11.4 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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