Description:
MUCOLIPIDOSIS IV
MUCOLIPIN 1; MCOLN1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
ASHKENAZI
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.45 |
| Passage Frozen |
24 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
MCOLN1 |
| Chromosomal Location |
19p13.3-p13.2 |
| Allelic Variant 1 |
605248.0002; MUCOLIPIDOSIS IV |
| Identified Mutation |
6,450-BP DEL; In 1 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the minor founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous 6,450-bp deletion in the MCOLN1 gene. The deletion spanned a region from 928 bp upstream from the first exon of MCOLN1 to bp 31 of exon 7 (del EX1-EX7). |
| |
| Gene |
MCOLN1 |
| Chromosomal Location |
19p13.3-p13.2 |
| Allelic Variant 2 |
605248.0002; MUCOLIPIDOSIS IV |
| Identified Mutation |
6,450-BP DEL; In 1 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the minor founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous 6,450-bp deletion in the MCOLN1 gene. The deletion spanned a region from 928 bp upstream from the first exon of MCOLN1 to bp 31 of exon 7 (del EX1-EX7). |
| Hantash FM, Olson SC, Anderson B, Buller A, Chen R, Crossly B, Sun W, Strom CM, Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population The Journal of molecular diagnostics : JMD8:282-7 2006 |
| PubMed ID: 16645217 |
| |
| Jennings JJ, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K, Mitochondrial aberrations in mucolipidosis Type IV The Journal of biological chemistry281:39041-50 2006 |
| PubMed ID: 17056595 |
| |
| Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K, TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity The Journal of biological chemistry281:7294-301 2005 |
| PubMed ID: 16361256 |
| |
| Edelmann L, Dong J, Desnick RJ, Kornreich R, Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet70(4):1023-7 2002 |
| PubMed ID: 11845410 |
| |
| Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G, Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet67(5):1110-20 2000 |
| PubMed ID: 11013137 |
| Passage Frozen |
24 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
|
|