ID   GM06123
AC   CVCL_X445
DR   CLO; CLO_0023649
DR   Coriell; GM06123
DR   Wikidata; Q54842178
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6617; LIPA; Simple; p.Ala199Cysfs*13 (c.594dupT); ClinVar=VCV000000080; Zygosity=Heterozygous (Coriell=GM06123).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 30-01-24; Version: 12
//
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).
//