ID   HDDF
AC   CVCL_E3QQ
SY   Huntington's Disease Dermal Fibroblasts
RX   PubMed=39218021;
CC   Doubling time: 24 hours (Note=At 7th passage), 32 hours (Note=At 20th passage), 45 hours (Note=At 30th passage), 55 hours (Note=At 40th passage) (PubMed=39218021).
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[46+-1] (c.52CAG(46+-1)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=39218021).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Finite cell line
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39218021; DOI=10.1134/S000629792407006X;
RA   Kraskovskaya N.A., Kol'tsova A.M., Parfenova P., Shatrova A.N.,
RA   Yartseva N.M., Nazarov V.D., Devyatkina E., Khotin M.G.,
RA   Mikhailova N.A.;
RT   "Dermal fibroblast cell line from a patient with the Huntington's
RT   disease as a promising model for studying disease pathogenesis:
RT   production and characterization.";
RL   Biochemistry (Mosk.) 89:1239-1250(2024).
//