Description:
TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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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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Black/African American
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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 |
5.2 |
| Passage Frozen |
11 |
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| beta-N-acetylhexosaminidase (hexosaminidase A) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52 |
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| Gene |
HEXA |
| Chromosomal Location |
15q23-q24 |
| Allelic Variant 1 |
; TAY-SACHS DISEASE |
| Identified Mutation |
436delG |
| |
| Gene |
HEXA |
| Chromosomal Location |
15q23-q24 |
| Allelic Variant 2 |
; TAY-SACHS DISEASE |
| Identified Mutation |
436delG |
| Remarks |
Non-Jewish; deficient hexosaminidase A; donor subject is homozygous for a 1 bp deletion at nucleotide 436 in exon 4 of the HEXA gene (c.436delG) |
| de Feijter-Rupp HL, Hayashi T, Kalimi GH, Edwards P, Redpath JL, Chang CC, Stanbridge EJ, Trosko JE, Restored gap junctional communication in non-tumorigenic HeLa-normal human fibroblast hybrids. Carcinogenesis19:747-54 1998 |
| PubMed ID: 9635859 |
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| Ehring GR, Antoniono RJ, Redpath JL, Gap junction expression following UVC-induced neoplastic transformation in human hybrid cell lines. Carcinogenesis19:2085-93 1998 |
| PubMed ID: 9886561 |
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| Jesudasan RA, Rahman RA, Chandrashekharappa S, Evans GA, Srivatsan ES, Deletion and translocation of chromosome 11q13 sequences in cervical carcinoma cell lines [see comments] Am J Hum Genet56:705-15 1995 |
| PubMed ID: 7887426 |
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| Misra BC, Srivatsan ES, Localization of HeLa cell tumor-suppressor gene to the long arm of chromosome II. Am J Hum Genet45:565-77 1989 |
| PubMed ID: 2577469 |
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| Ohno, Molecular genetics of B-N-acetyl-hexosaminidase alpha subunit mutations (from Lipid Storage Disorders, Plenum Publishing Corp) "Lipid Storage Disorders"1988, pp215:565-77 1988 |
| PubMed ID: 2577469 |
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| Sanford KK, Parshad R, Stanbridge EJ, Frost JK, Jones GM, Wilkinson JE, Tarone RE, Chromosomal radiosensitivity during the G2 cell cycle period and cytopathology of human normal x tumor cell hybrids. Cancer Res46:2045-9 1986 |
| PubMed ID: 3948180 |
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| Ali IU, Structural analysis of fibronectin and its collagen-binding fragment from several cell lines. Proc Natl Acad Sci U S A81:28-32 1984 |
| PubMed ID: 6582482 |
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| Parshad R, Gantt R, Sanford KK, Jones GM, Chromosomal radiosensitivity of human tumor cells during the G2 cell cycle period. Cancer Res44:5577-82 1984 |
| PubMed ID: 6498819 |
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| Stanbridge EJ, Der CJ, Doersen CJ, Nishimi RY, Peehl DM, Weissman BE, Wilkinson JE, Human cell hybrids: analysis of transformation and tumorigenicity. Science215:252-9 1982 |
| PubMed ID: 7053574 |
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| Stanbridge EJ, Rosen SW, Sussman HH, Expression of the alpha subunit of human chorionic gonadotropin is specifically correlated with tumorigenic expression in human cell hybrids. Proc Natl Acad Sci U S A79:6242-5 1982 |
| PubMed ID: 6959112 |
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| Der CJ, Stanbridge EJ, A tumor-specific membrane phosphoprotein marker in human cell hybrids. Cell26:429-38 1981 |
| PubMed ID: 7326746 |
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| Stanbridge EJ, Flandermeyer RR, Daniels DW, Nelson-Rees WA, Specific chromosome loss associated with the expression of tumorigenicity in human cell hybrids. Somatic Cell Genet7:699-712 1981 |
| PubMed ID: 7323948 |
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| Wysocki, Tay-Sach's disease: Prenatal monitoring of a high risk pregnancy. Aust N Z J Obstet Gynaecol16:89 (1976):699-712 1976 |
| PubMed ID: 7323948 |
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| Wysocki SJ, Hahnel R, Electrophoretic detection of hexosaminidase I in amniotic fluid. Clin Chim Acta67:219-20 1976 |
| PubMed ID: 942889 |
| dbSNP |
dbSNP ID: 21731 |
| Gene Cards |
HEXA |
| Gene Ontology |
GO:0004563 beta-N-acetylhexosaminidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006687 glycosphingolipid metabolism |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:3073 |
| NCBI GTR |
272800 TAY-SACHS DISEASE; TSD |
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606869 HEXOSAMINIDASE A; HEXA |
| OMIM |
272800 TAY-SACHS DISEASE; TSD |
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606869 HEXOSAMINIDASE A; HEXA |
| Omim Description |
B VARIANT GM2 GANGLIOSIDOSIS |
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GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED |
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GM2-GANGLIOSIDOSIS, TYPE I |
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HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED |
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HEXOSAMINIDASE A DEFICIENCY |
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HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED |
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TAY-SACHS DISEASE, JUVENILE, INCLUDED |
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TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED |
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TAY-SACHS DISEASE, VARIANT B1, INCLUDED |
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TAY-SACHS DISEASE; TSD |
| Passage Frozen |
11 |
| Split Ratio |
1:8 |
| 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 |
| Supplement |
- |
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