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Cellosaurus FAMRCi007-A (CVCL_WP88)

[Text version]
Cell line name FAMRCi007-A
Synonyms LMNA #4
Accession CVCL_WP88
Resource Identification Initiative To cite this cell line use: FAMRCi007-A (RRID:CVCL_WP88)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
Disease Emery-Dreifuss muscular dystrophy 2, autosomal dominant (NCIt: C126745)
Autosomal dominant Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_98853)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WP89 ! FAMRCi007-B
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32659731

Markers:
AmelogeninX,Y
D2S4419,13
D3S135816,17
D7S8207,8
D12S39117,23
D13S31710
D18S5111,17
D21S1125,28.2
TH019.3
TPOX8,11
vWA16,17,18.2,19

Run an STR similarity search on this cell line
Publications

PubMed=32659731; DOI=10.1016/j.scr.2020.101895
Perepelina K.I., Kostina A., Klauzen P., Khudiakov A.A., Rabino M., Crasto S., Zlotina A., Fomicheva Y., Sergushichev A., Oganesian M., Dmitriev A., Kostareva A.A., Di Pasquale E., Malashicheva A.B.
Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln.
Stem Cell Res. 47:101895-101895(2020)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi007-A
Biological sample resources BioSamples; SAMEA6276784
Encyclopedic resources Wikidata; Q93549779
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number9