| Cell line name |
GM09033 |
|---|
| Synonyms |
GM 9033; GM9033 |
|---|
| Accession |
CVCL_W038 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM09033 (RRID:CVCL_W038) |
|---|
| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Sequence variations |
- Mutation; HGNC; 438; ALPL; Simple; p.Gly334Asp (c.1001G>A) (G317D, 1177A); ClinVar=VCV000013672; Zygosity=Homozygous (PubMed=8675582).
|
|---|
| Disease |
Hypophosphatasia (NCIt: C26798)
Hypophosphatasia (ORDO: Orphanet_436) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Male |
|---|
| Age at sampling |
1D |
|---|
| Category |
Finite cell line |
|---|
| Publications | PubMed=2705456; PMCID=PMC1715639
Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N., Lafferty M.A., Mulivor R.A., Harris H.
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.
Am. J. Hum. Genet. 44:686-694(1989) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8675582; DOI=10.1210/jcem.81.7.8675582
Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P.
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia.
J. Clin. Endocrinol. Metab. 81:2587-2594(1996) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM09033
|
|---|
| Cell line databases/resources |
CLO; CLO_0010839
|
|---|
| Biological sample resources |
BioSample; SAMN00798447
|
|---|
| Encyclopedic resources |
Wikidata; Q54843511
|
|---|
| Entry history |
|---|
| Entry creation | 16-Apr-2014 |
|---|
| Last entry update | 29-Jun-2023 |
|---|
| Version number | 13 |
|---|
