ID   KS32
AC   CVCL_LC43
DR   JCRB; JCRB1728
DR   Wikidata; Q54900496
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Heterozygous; Note=Splice donor mutation (JCRB=JCRB1728).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1728
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,9
ST   D16S539: 9,11
ST   D5S818: 10,11
ST   D7S820: 12
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 11
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