| Cell line name |
GM00334 |
|---|
| Synonyms |
GM-334; GM00334A |
|---|
| Accession |
CVCL_W232 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM00334 (RRID:CVCL_W232) |
|---|
| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Sequence variations |
- Mutation; HGNC; 4118; GALK1; Simple; p.Val32Met (c.94G>A); ClinVar=VCV000005628; Zygosity=Homozygous (PubMed=7670469).
|
|---|
| Disease |
Galactokinase deficiency (NCIt: C114767)
Galactokinase deficiency (ORDO: Orphanet_79237) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Female |
|---|
| Age at sampling |
22Y |
|---|
| 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=7670469; DOI=10.1038/ng0795-307
Stambolian D.E., Ai Y.-J., Sidjanin D., Nesburn K., Sathe G., Rosenberg M., Bergsma D.J.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Nat. Genet. 10:307-312(1995) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM00334
|
|---|
| Cell line databases/resources |
CLO; CLO_0025532
|
|---|
| Encyclopedic resources |
Wikidata; Q54836168
|
|---|
| Entry history |
|---|
| Entry creation | 16-Apr-2014 |
|---|
| Last entry update | 29-Jun-2023 |
|---|
| Version number | 13 |
|---|
