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| Cell line name |
HMC-1.2 |
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| Synonyms |
HMC-1_2; HMC1_2; HMC1.2; HMC-1(560,816); HMC-1-560_816 |
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| Accession |
CVCL_H205 |
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| Resource Identification Initiative |
To cite this cell line use: HMC-1.2 (RRID:CVCL_H205) |
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| Comments |
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Mast cell; CL=CL_0000097. |
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| Sequence variations |
- Mutation; HGNC; 6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=12519307).
- Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=12519307).
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| Disease |
Mast cell leukemia (NCIt: C3169)
Mast cell leukemia (ORDO: Orphanet_98851) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_0003 (HMC-1) |
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| Sex of cell |
Male |
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| Age at sampling |
52Y |
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| Category |
Cancer cell line |
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| STR profile |
Source(s): Millipore=SCC062
Markers:| Amelogenin | X |
| CSF1PO | 10,13 |
| D3S1358 | 15 |
| D5S818 | 12,13 |
| D7S820 | 10,11 |
| D8S1179 | 12 |
| D13S317 | 10,11 |
| D16S539 | 12 |
| D18S51 | 14,20 |
| D21S11 | 29 |
| FGA | 18,20 |
| Penta D | 11 |
| Penta E | 9,19 |
| TH01 | 7,9.3 |
| TPOX | 8,11 |
| vWA | 17,19 |
Run an STR similarity search on this cell line |
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| Publications | PubMed=11861291; DOI=10.1182/blood.V99.5.1741
Ma Y.-S., Zeng S., Metcalfe D.D., Akin C., Dimitrijevic S., Butterfield J.H., McMahon G., Longley B.J.
The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations.
Blood 99:1741-1744(2002) PubMed=12519307; DOI=10.1046/j.1365-2567.2003.01559.x; PMCID=PMC1782858
Sundstrom M., Vliagoftis H., Karlberg P., Butterfield J.H., Nilsson K., Metcalfe D.D., Nilsson G.
Functional and phenotypic studies of two variants of a human mast cell line with a distinct set of mutations in the c-kit proto-oncogene.
Immunology 108:89-97(2003) PubMed=25149487; DOI=10.1007/978-1-4939-1173-8_8
Passante E.
Mast cell and basophil cell lines: a compendium.
Methods Mol. Biol. 1192:101-113(2014) |
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| Cross-references |
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| Cell line collections (Providers) |
Millipore; SCC062
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| Cell line databases/resources |
cancercelllines; CVCL_H205
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| Encyclopedic resources |
Wikidata; Q54889910
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| Polymorphism and mutation databases |
Cosmic; 819945
Cosmic; 1476310
Cosmic; 1476422
Cosmic; 1498492
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 02-May-2024 |
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| Version number | 17 |
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