Cellosaurus logo
expasy logo

Cellosaurus GM09546 (CVCL_F209)

[Text version]
Cell line name GM09546
Accession CVCL_F209
Resource Identification Initiative To cite this cell line use: GM09546 (RRID:CVCL_F209)
Comments Population: Caucasian; Italian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (Coriell=GM09546).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZJ16 (MPIi006-A)
Originate from same individual CVCL_7493 ! GM09545
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
STR profile Source(s): PubMed=32446239

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165611,12
D2S44114,15
D2S133817
D3S135816
D5S81811,12
D7S8207,8
D8S117913,14
D10S124814,16
D12S39115,21
D13S31711,12
D16S53911
D18S5111,13
D19S43314,15
D21S1129,31.2
D22S104515,16
DYS39110
FGA21,23
SE3318,28.2
TH017,9.3
TPOX8,11
vWA19

Run an STR similarity search on this cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=32446239; DOI=10.1016/j.scr.2020.101839
Kim K.-P., Yoon J., Shin B., Ropke A., Han D.W., Scholer H.R.
Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease.
Stem Cell Res. 46:101839-101839(2020)

Cross-references
Cell line collections (Providers) Coriell; GM09546
Cell line databases/resources CLO; CLO_0011434
Encyclopedic resources Wikidata; Q54843837
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number16