ID   GM06333
AC   CVCL_W048
DR   CLO; CLO_0023073
DR   Coriell; GM06333
DR   Wikidata; Q54842261
RX   CelloPub=CLPUB00447;
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; 16002; MPLKIP; Simple; p.Gly46Glufs*13 (c.137_138delGG) (187_188delGG); ClinVar=VCV000001845; Zygosity=Homozygous (Coriell=GM06333).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146899; Trichothiodystrophy 4, nonphotosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//