ID   GM10640
AC   CVCL_HQ03
DR   CLO; CLO_0024561
DR   BioSample; SAMN00800122
DR   Coriell; GM10640
DR   Wikidata; Q54844567
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 403; ALDH3A2; Simple; p.Glu433Argfs*3 (c.1293_1294GA[2]) (c.1297_1298delGA); ClinVar=VCV000001641; Zygosity=Heterozygous (Coriell=GM10640).
CC   Sequence variation: Mutation; HGNC; 403; ALDH3A2; Simple; p.Leu438Thrfs*21 (c.1307_1311dupACAAA); ClinVar=VCV000001642; Zygosity=Heterozygous (Coriell=GM10640).
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   Age unspecified
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 15
//
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).
//