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Cellosaurus KM8 (CVCL_RY75)

[Text version]
Cell line name KM8
Accession CVCL_RY75
Resource Identification Initiative To cite this cell line use: KM8 (RRID:CVCL_RY75)
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; Simple; p.Asp433His (c.1297G>C); ClinVar=VCV000003732; Zygosity=Homozygous (PubMed=1446662).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX,Y
CSF1PO10,12
D5S81811,12
D7S8208,11
D13S31710,12
D16S53911,14
TH019
TPOX8,11
vWA17,18

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Publications

PubMed=3391611; DOI=10.1007/BF00280546
Funahashi T., Miyake Y., Yamamoto A., Matsuzawa Y., Kishino B.-i.
Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.
Hum. Genet. 79:103-108(1988)

PubMed=1446662; DOI=10.1111/j.1432-1033.1992.tb17383.x
Miyake Y., Tajima S., Funahashi T., Yamamura T., Yamamoto A.
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
Eur. J. Biochem. 210:1-7(1992)

Cross-references
Cell line collections (Providers) JCRB; JCRB1713
Encyclopedic resources Wikidata; Q54900073
Entry history
Entry creation14-May-2018
Last entry update05-Oct-2023
Version number10