GM02529
Amniotic fluid-derived cell line from Amniotic fluid
Description:
MUCOLIPIDOSIS IV
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Biopsy Source
|
Amniotic fluid
|
Cell Type
|
Amniotic fluid-derived cell line
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
ASHKENAZI
|
Family Member
|
2
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
19 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Remarks |
Ashkenazi; abnormal cytoplasmic lysosomal storage bodies; affected sib is GM02048 Fibroblast and GM02533A Lymphoid; 46,XX; 8% of cells show random chromosome loss |
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 |
|
Kohn G, Livni N, Ornoy A, Sekeles E, Beyth Y, Legum C, Bach G, Cohen MM, Prenatal diagnosis of mucolipidosis IV by electron microscopy. J Pediatr90:62-6 1977 |
PubMed ID: 830895 |
Passage Frozen |
19 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Amniotic Fluid Culture Medium |
Serum |
none Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
|
|