ID   GM10337
AC   CVCL_JB54
DR   CLO; CLO_0029080
DR   Coriell; GM10337
DR   Wikidata; Q54844388
RX   PubMed=1598097;
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C133086; Carnitine-acylcarnitine translocase deficiency
DI   ORDO; Orphanet_159; Carnitine-acylcarnitine translocase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3M
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 7
//
RX   PubMed=1598097; DOI=10.1056/NEJM199207023270104;
RA   Stanley C.A., Hale D.E., Berry G.T., Deleeuw S., Boxer J.,
RA   Bonnefont J.-P.;
RT   "Brief report: a deficiency of carnitine-acylcarnitine translocase in
RT   the inner mitochondrial membrane.";
RL   N. Engl. J. Med. 327:19-23(1992).
//