NA01881
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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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ISCN
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46,XY,t(1;21)(p31;q22)[20]
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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 |
5.53 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| AMYLOID PRECURSOR PROTEIN |
Patterson et al (Proc Natl Acad Sci USA 85:8266-8270,1988) reported that DNA from a CHO-human hybrid constructed using this cell culture that retained the t(1;21) had the APP gene and anonymous DNA sequence D21S12 but lacked anonymous DNA sequence D21S11. These studies allowed the mapping of the APP gene to the 21q22 region of chromosome 21. |
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| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1 |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 1 |
605270.0003; SANFILIPPO SYNDROME A |
| Identified Mutation |
SER66TRP; A C-to-G transition results in the non-conservative amino acid exchange of ser66-to-trp (S66W). |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 2 |
V131M; SANFILIPPO SYNDROME A |
| Identified Mutation |
VAL131MET |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p31 t(1;21)1p31 |
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Chromosome 21: TRANSLOCATION Breakpoint 21q22 t(1;21)21q22 |
| Remarks |
Deficient heparan N-sulfatase; normal alpha-N-acetylglucosaminidase activity; 46,XY,t(1;21)(1qter>1p31::21q22>21qter; 21pter>21q22::1p31>1pter), balanced; excessive heparan sulfate in urine; donor subject is a compound heterozygote: one allele has a missense mutation (C>G) at nucleotide 209 (209C>G) of the SGSH gene [Ser66Trp(S66W)]; the second allele has a Val to Met change at codon 131 [Val131Met (V131M)] |
| Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ, Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet6:1573-1579 1997 |
| PubMed ID: 9285796 |
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| Korenberg JR, Pulst SM, Neve RL, West R, The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. Genomics5:124-7 1989 |
| PubMed ID: 2527801 |
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| Gardiner K, Watkins P, Munke M, Drabkin H, Jones C, Patterson D, Partial physical map of human chromosome 21. Somat Cell Mol Genet14:623-37 1988 |
| PubMed ID: 3194801 |
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| Patterson D, Gardiner K, Kao FT, Tanzi R, Watkins P, Gusella JF, Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. Proc Natl Acad Sci U S A85:8266-70 1988 |
| PubMed ID: 2973063 |
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| Korenberg JR, Croyle ML, Cox DR, Isolation and regional mapping of DNA sequences unique to human chromosome 21. Am J Hum Genet41:963-78 1987 |
| PubMed ID: 2891299 |
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| Van Keuren ML, Hart IM, Kao FT, Neve RL, Bruns GA, Kurnit DM, Patterson D, A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet44:142-7 1987 |
| PubMed ID: 3568763 |
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| Rodewald A, Cleve H, Stengel-Rutkowski S, Wirtz A, Murken JD, DiValerio M, Mulivor RA, Greene AE, Coriell LL, A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881. Cytogenet Cell Genet27:267 1980 |
| PubMed ID: 6777119 |
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