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Cellosaurus GM09546 (CVCL_F209)

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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; 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

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Publications

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

PubMed=32446239; DOI=10.1016/j.scr.2020.101839
Kee-Pyo Kim, Juyong Yoon, Borami Shin, Albrecht Ropke, Dong Wook Han, Hans Robert Scholer;
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 update19-Dec-2024
Version number17