ID   GM10641
AC   CVCL_N151
SY   GM17305
DR   CLO; CLO_0013314
DR   CLO; CLO_0024560
DR   BioSample; SAMN00800124
DR   Coriell; GM10641
DR   Coriell; GM17305
DR   Wikidata; Q54844568
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: South American (Andes).
CC   Sequence variation: Mutation; HGNC; 403; ALDH3A2; Simple; p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla (c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG) (941-943delCCC+ins21bp); Zygosity=Homozygous (Coriell=GM10641).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85070; Sjogren-Larsson syndrome
DI   ORDO; Orphanet_816; Sjogren-Larsson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 05-11-13; 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).
//