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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
Kseniya I. Perepelina, Aleksandra Kostina, Polina Klauzen, Aleksandr A. Khudiakov, Martina Rabino, Silvia Crasto, Anna Zlotina, Yulia Fomicheva, Alexey Sergushichev, Mari Oganesian, Alexander Dmitriev ...Show all 14 authors... , Anna A. Kostareva, Elisa Di Pasquale, Anna B. Malashicheva; Show fewer authors
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