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Cellosaurus MN20 (CVCL_UF91)

[Text version]
Cell line name MN20
Accession CVCL_UF91
Resource Identification Initiative To cite this cell line use: MN20 (RRID:CVCL_UF91)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Unexplicit; Ex16-18del (nsv1067857); ClinVar=VCV000003711; Zygosity=Homozygous (PubMed=6272292).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO11,12
D5S81811,13
D7S82010,11
D13S31711,13
D16S53910,12
TH016,9
TPOX8,11
vWA16

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Publications

PubMed=6272292; DOI=10.1073/pnas.78.8.5151
Miyake Y., Tajima S., Yamamura T., Yamamoto A.
Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein.
Proc. Natl. Acad. Sci. U.S.A. 78:5151-5155(1981)

Cross-references
Cell line collections (Providers) JCRB; JCRB1722
Encyclopedic resources Wikidata; Q95990412
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number8