ID   Ma-Mel-144aI
AC   CVCL_E4B4
SY   Ma-Mel 144aI; MaMel-144a; MaMel144aI
RX   PubMed=21595858;
CC   Sequence variation: Mutation; HGNC; HGNC:6342; KIT; Simple; p.Ser476Ile (c.1427G>T); Zygosity=Heterozygous; Note=Activating mutation (PubMed=21595858).
CC   Miscellaneous: Sex and age of donor from personal communication of Schadendorf, Dirk through Yeh, Iwei.
CC   Miscellaneous: STR profile from personal communication of Yeh, Iwei.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
ST   Source(s): Direct_author_submission
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 13
ST   D16S539: 11
ST   D18S51: 18,19
ST   D19S433: 15
ST   D21S11: 30
ST   D2S1338: 17
ST   D3S1358: 14,16
ST   D5S818: 11
ST   D7S820: 12
ST   D8S1179: 10
ST   FGA: 22
ST   Penta D: 10,14
ST   Penta E: 7,17
ST   TH01: 9
ST   TPOX: 9
ST   vWA: 19
DI   NCIt; C4022; Acral lentiginous melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   67Y
CA   Cancer cell line
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=21595858; DOI=10.1111/j.1755-148X.2011.00870.x;
RA   Liang R.-X., Wallace A.R., Schadendorf D., Rubin B.P.;
RT   "The phosphatidyl inositol 3-kinase pathway is central to the
RT   pathogenesis of Kit-activated melanoma.";
RL   Pigment Cell Melanoma Res. 24:714-723(2011).
//