Cellosaurus cell line MYB#2.2 (CVCL

Cellosaurus MYB#2.2 (CVCL_E7AE)

[Text version]

Cell line name

MYB#2.2

Synonyms

MYB 2#2; MYB2.2

Accession

CVCL_E7AE

Resource Identification Initiative

To cite this cell line use: MYB#2.2 (RRID:CVCL_E7AE)

Comments

Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Lys600Asnfs*2 (c.1800delA); ClinVar=VCV000042568; Zygosity=Heterozygous (PubMed=37317833).

Disease

Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_E7AG (MYB#2.2 corrected)

Sex of cell

Female

Age at sampling

36Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	10,12
D2S1338	17,24
D3S1358	15
D5S818	11,12
D7S820	10,11
D8S1179	12,15
D13S317	13
D16S539	11
D18S51	12,16
D19S433	15,15.2
D21S11	28
FGA	23
TH01	8,9.3
TPOX	9,11
vWA	16,18

Web pages

Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+MYB2+2+Solicitud+de+dep%C3%B3sito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/MYB2%25202%2520Anexo.pdf

Publications

PubMed=37317833; DOI=10.1161/CIRCRESAHA.122.321951
Escriba R., Larranaga-Moreira J.M., Richaud-Patin Y., Pourchet L., Lazis I., Jimenez-Delgado S., Morillas-Garcia A., Ortiz-Genga M., Ochoa J.P., Carreras Gorgals D., Perez G.J., de la Pompa J.L., Brugada R., Monserrat L., Barriales-Villa R., Raya A.
iPSC-based modeling of variable clinical presentation in hypertrophic cardiomyopathy.
Circ. Res. 133:108-119(2023)

Entry history

Entry creation

10-Apr-2025

Last entry update

10-Apr-2025

Version number