ID   GM02241
AC   CVCL_GZ39
SY   GM-2241
DR   CLO; CLO_0032240
DR   BioSample; SAMN00807622
DR   Coriell; GM02241
DR   Wikidata; Q54837386
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2600; CYP21A2; Simple; c.293-13A/C>G (IVS2-13A/C>G); Zygosity=Unspecified; Note=Aberrant splice site activation (Coriell=GM02241).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C129302; Adrenal gland hyperplasia III
DI   ORDO; Orphanet_90794; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_GZ40 ! GM02242
SX   Female
AG   1M
CA   Finite cell line
DT   Created: 26-09-16; 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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//