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Cellosaurus SS23 (CVCL_RY76)

[Text version]
Cell line name SS23
Accession CVCL_RY76
Resource Identification Initiative To cite this cell line use: SS23 (RRID:CVCL_RY76)
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; c.68-1G>C; ClinVar=VCV000251005; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=10200052).
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 20Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO12,13
D5S81810,11
D7S82010,11
D13S3178,12
D16S53910,11
TH017,9
TPOX8,11
vWA14

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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=10200052; DOI=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W
Maruyama T., Miyake Y., Yamamura T., Tajima S., Funahashi T., Matsuzawa Y., Yamamoto A.
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping.
Hum. Mutat. 11:480-481(1998)

Cross-references
Cell line collections (Providers) JCRB; JCRB1710
Encyclopedic resources Wikidata; Q54955684
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number11