| Cell line name |
GM02014 |
|---|
| Synonyms |
GM-2014; GM02014A; GM17041; GM17331 |
|---|
| Accession |
CVCL_M990 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM02014 (RRID:CVCL_M990) |
|---|
| Comments |
Part of: Human variation panel.
Population: Arab.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Sequence variations |
- Mutation; HGNC; 29670; GNPTAB; Simple; p.Tyr1079Leufs*3 (c.3231_3234dupCTAC) (3395_3398dupCTAC); ClinVar=VCV000038423; Zygosity=Heterozygous (PubMed=16465621).
|
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Female |
|---|
| Age at sampling |
18Y |
|---|
| Category |
Finite cell line |
|---|
| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) PubMed=16465621; DOI=10.1086/500849
Kudo M., Brem M.S., Canfield W.M.
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene.
Am. J. Hum. Genet. 78:451-463(2006) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM02014
Coriell; GM17041
Coriell; GM17331
|
|---|
| Cell line databases/resources |
CLO; CLO_0013611
CLO; CLO_0014625
CLO; CLO_0032307
|
|---|
| Biological sample resources |
BioSample; SAMN00807388
|
|---|
| Encyclopedic resources |
Wikidata; Q54837238
|
|---|
| Entry history |
|---|
| Entry creation | 05-Nov-2013 |
|---|
| Last entry update | 05-Oct-2023 |
|---|
| Version number | 15 |
|---|